(Q72822996)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

review article

1 reference

title

Molecular pathology of 21-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

T Strachan

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

29 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

17

1 reference

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29 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

430-441

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00711358

29 October 2019

exact match

0 references

cites work

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus

1 reference

12 December 2020

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

1 reference

12 December 2020

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia

1 reference

12 December 2020

A method for specific amplification and PCR sequencing of individual members of multigene families: application to the study of steroid 21-hydroxylase deficiency

1 reference

12 December 2020

A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome

1 reference

12 December 2020

Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Prenatal diagnosis of congenital adrenal hyperplasia

1 reference

12 December 2020

Structure of human steroid 21-hydroxylase genes

1 reference

12 December 2020

Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

1 reference

12 December 2020

Molecular pathology of congenital adrenal hyperplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes

1 reference

12 December 2020

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

1 reference

12 December 2020

Abundant adrenal-specific transcription of the human P450c21A "pseudogene".

1 reference

12 December 2020

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711358

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967493%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference