Article
CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jan 2013
Yao Fengxia, Huang Shangzhi, Kang Xiaodi, Zhang Weimin, Wang Peng, Tian Qinjie
Abstract excerpt
CONTEXT: 17α-hydroxylase deficiency (17OHD) is a relatively rare disease, accounting for about 1% of congenital adrenal hyperplasia cases. The CYP17A1 gene mutation can lead to this disease. Human CYP17A1 gene is located on chromosome 10q24.3. It consists of eight exons encoding 508 amino acids. To date, more than 50 mutations in exons and introns of the CYP17A1 gene have been reported to cause complete or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.