Article
Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
Journal of endocrinological investigation - 1 Jun 2013
Balraj P, Lim P G, Sidek H, Wu L L, Khoo A S B
Abstract excerpt
BACKGROUND AND AIM: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. Our objective was to identify the 21-hydroxylase active gene, CYP21A2 mutations in Malaysian 21-OHD patients using different techniques. MATERIALS AND METHODS: Blood samples were obtained from 97 Malaysian 21-OHD patients, which included 40 siblings from 19 families. We used...
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