(Q36804811)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

review article

1 reference

title

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

congenital adrenal hyperplasia

30 December 2019

main subject

congenital disorder

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Ana Friães

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Luís Francisco Moura

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Ana Friães

2

1 reference

16 August 2017

Luís Moura

3

1 reference

16 August 2017

language of work or name

1 reference

30 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

Expert Reviews in Molecular Medicine

30 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

1-23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17466088%20AND%20SRC:MED&resulttype=core&format=json

NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

30 December 2019

cites work

1 reference

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Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).

21 January 2018

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A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency

21 January 2018

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Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.

21 January 2018

1 reference

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Modulation of the activity of human 17 alpha-hydroxylase-17,20-lyase (CYP17) by cytochrome b5: endocrinological and mechanistic implications

21 January 2018

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Nonclassic 11 beta-hydroxylase deficiency: report of two patients and review

21 January 2018

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Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency

21 January 2018

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StAR search--what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import

21 January 2018

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7 January 2021

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

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7 January 2021

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency

1 reference

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7 January 2021

Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese

1 reference

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7 January 2021

Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-Deoxycortisol in Classic Congenital Adrenal Hyperplasia: Clinical and Hormonal Correlations and Identification of Patients with 11β-Hydroxylase Deficiency among a Large Group with Alleged 21-Hyd

1 reference

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7 January 2021

Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)

1 reference

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7 January 2021

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews

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7 January 2021

High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco

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7 January 2021

The genetics, pathophysiology, and management of human deficiencies of P450c17.

1 reference

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7 January 2021

17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene

1 reference

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7 January 2021

Mutations in CYP11B1 gene: phenotype-genotype correlations

1 reference

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7 January 2021

Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.

1 reference

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7 January 2021

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency

1 reference

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7 January 2021

CYP17 Mutation E305G Causes Isolated 17,20-Lyase Deficiency by Selectively Altering Substrate Binding

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

The genetic and functional basis of isolated 17,20-lyase deficiency

1 reference

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7 January 2021

17 alpha-Hydroxylase/17,20-lyase defects.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the delta5 steroidogenic pathway

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Microsomal cytochrome P-450 from neonatal pig testis: two enzymatic activities (17 alpha-hydroxylase and c17,20-lyase) associated with one protein

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: case report

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Differentiation and regeneration of adrenal tissues: An initial step toward regeneration therapy for steroid insufficiency

1 reference

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7 January 2021

Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Cellular and extracellular regulatory mechanisms of hypothalamic corticotropin-releasing hormone neurons

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Extensive clinical experience: nonclassical 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

50th anniversary of aldosterone

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Structure of genes encoding steroidogenic enzymes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles

1 reference

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7 January 2021

Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Cytochromes P450 12: diversity of ACTH (cAMP)-dependent transcription of bovine steroid hydroxylase genes.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Molecular basis of androgen insensitivity

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Neonatal screening for congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Prenatal treatment of congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Ontogeny of adrenal steroid biosynthesis: why girls will be girls

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Hormonology: a genomic perspective on hormonal research

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Why nobody has P450scc (20,22 desmoslase) deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

MicroRNAs and endocrine biology

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021

Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000300

7 January 2021