Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency-Reference-Cited by-同舟云学术

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Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency

Published:1995 Issue:2 Volume:5 Page:126-130
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Barbat Benoit,Bogyo Any,Raux-Demay Marie-Charles,Kuttenn Frédéarique,Boué Joelle,Simon-Bouy Brigitte,Serre Jean-Louis,Boué André,Mornet Etienne

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference36 articles.

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

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

3. A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

4. 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.

5. Detection of over 98% cystic fibrosis mutations in a Celtic population

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1. Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency;Molecular Diagnosis & Therapy;2023-08-07

2. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management;Endocrine Reviews;2021-05-07

3. Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia: the importance of optimal hormonal replacement;European Journal of Endocrinology;2021-04

4. The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort;Molecular Genetics & Genomic Medicine;2020-09-21

5. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02

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