Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family-Reference-Cited by-同舟云学术

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family

Published:2012-02 Issue:3 Volume:175 Page:514-518
ISSN:0016-6480
Container-title:General and Comparative Endocrinology
language:en
Short-container-title:General and Comparative Endocrinology

Author:

Ben Charfeddine Ilhem,Riepe Felix G.,Kahloul Najoua,Kulle Alexandra E.,Adala Labiba,Mamaï Ons,Amara Abdelbasset,Mili Amira,Amri Fathi,Saad Ali,Holterhus Paul-Martin,Gribaa Moez

Funder

European Society for Paediatric Endocrinology

Publisher

Elsevier BV

Subject

Endocrinology,Animal Science and Zoology

Reference19 articles.

1. Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population;Chabraoui;Horm. Res. Paediatr.,2010

2. Genetics of congenital adrenal hyperplasia;Krone;Best Pract. Res. Clin. Endocrinol. Metab.,2009

3. 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;Krone;J. Clin. Endocrinol. Metab.,2006

4. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency – insights from two novel CYP11B1 mutations (p.M92X, p.R453Q);Krone;Horm. Res.,2009

5. 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;Krone;J. Clin. Endocrinol. Metab.,2005

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