(Q28247814)

1

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M T Tusie-Luna

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M I New

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P W Speiser

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

4

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language of work or name

English

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publication date

1994

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published in

Human Mutation

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volume

3

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page(s)

373-8

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issue

4

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Genetic disease detection and DNA amplification using cloned thermostable ligase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

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/10.1002%2FHUMU.1380030408

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/10.1002%2FHUMU.1380030408

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

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/10.1002%2FHUMU.1380030408

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/10.1002%2FHUMU.1380030408

7 January 2021

Structure of human steroid 21-hydroxylase genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030408

7 January 2021