نتایج جستجو برای: ژن cyp21a2

تعداد نتایج: 16028  

ژورنال: پژوهش در پزشکی 2018

  Background: Congenital Adrenal Hyperplasia (CAH) is an inherited hereditary autosomal recessive heredity, which is often induced by mutation in the CYP21A2 gene. The aim of this study was to determine the prevalence of cluster exon 6 mutation among patients with CAH deficient in 21-OHD enzyme in Iranian population. Materials and Methods: This is a descriptive study and Blood samples were ...

2009
Firdevs Baş Hülya Kayserili Feyza Darendeliler Oya Uyguner Hülya Günöz Memnune Yüksel Apak Fatmahan Atalar Rüveyde Bundak Robert C. Wilson Maria I. New Bernd Wollnik Nurçin Saka

BACKGROUND Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene. OBJECTIVE Our aim was to determine the frequency of common gene mutations and to evaluate genotype-phenotype correlations in Turkish 21-OHD patients. METHODS Molecular analysis of the CYP21A2 gene was performed for the ...

Journal: :The Journal of Clinical Endocrinology & Metabolism 1996

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