Article
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
Steroids - 1 Jan 2000
Chan Angel O K, But W M, Ng K L, Wong L M, Lam Y Y, Tiu S C, Lee K F, Lee C Y, Loung P Y, Berry Ian R, Brown Rebecca, Charlton Ruth, Cheng C W, Ho Y C, Tse W Y, Shek C C
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 gene. OBJECTIVE: To elucidate the genetic basis of 21-hydroxylase-deficient CAH in Hong Kong Chinese patients. PATIENTS AND METHODS: Mutational analysis of the CYP21A2 gene was performed on 35 Hong Kong Chinese patients with 21OHD using direct DNA...
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