Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms-Reference-Cited by-同舟云学术

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms

Published:2012-10 Issue:1 Volume:507 Page:20-26
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Ben Charfeddine Ilhem,Riepe Felix G.,Clauser Eric,Ayedi Abdelkarim,Makni Saloua,Sfar Mohamed Tahar,Sboui Hassen,Kahloul Najoua,Ben Hamouda Hechmi,Chouchane Slaheddine,Trimech Sihem,Zouari Noura,M'Rabet Samir,Amri Fathi,Saad Ali,Holterhus Paul-Martin,Gribaa Moez

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference42 articles.

1. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency;Asanuma;J. Hum. Genet.,1999

2. Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency;Bachega;J. Clin. Endocrinol. Metab.,1998

3. Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia;Barbaro;J. Clin. Endocrinol. Metab.,2004

4. Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population;Baumgartner-Parzer;J. Clin. Endocrinol. Metab.,2005

5. Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11beta hydroxylase deficiency in a Tunisian family;Ben Charfeddine;Gen. Comp. Endocrinol.,2012

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