CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.

@article{Yao2013CYP17A1MI,
  title={CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.},
  author={Fengxia Yao and Shangzhi Huang and Xiaodi Kang and Wei-min Zhang and Peng Wang and Qinjie Tian},
  journal={Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology},
  year={2013},
  volume={29 1},
  pages={10-5}
}
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 partial 17OHD. OBJECTIVE The aim of this study was to investigate the CYP17A1 gene… CONTINUE READING
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