Article
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.
Clinica chimica acta; international journal of clinical chemistry - 11 Jun 2011
Bao Xunna, Ding Hu, Xu Yujun, Cui Guanglin, He Yebing, Yu Xuefeng, Wang Dao Wen
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia owing to 17α-hydroxylase/17, 20-lyase deficiency is caused by genetic mutations in the CYP17A1 gene. To date, more than 80 different genetic lesions have been described in patients suffering from this disorder. We aimed to estimate the prevalence of CYP17A1 common mutations in Chinese Han population. METHODS: We first reported two female patients with 17α-hydroxylase...
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