Phenotype-Genotype Correlation in Eight Chinese 17α-Hydroxylase/17,20 Lyase-Deficiency Patients with Five Novel Mutations of CYP17A1 Gene | Zendy

Jun Yang | Zendy; Bin Cui | Zendy; Shouyue Sun | Zendy; Tieliu Shi | Zendy; Siyuan Zheng | Zendy; Yufang Bi | Zendy; Jianmin Liu | Zendy; Yongju Zhao | Zendy; Jialun Chen | Zendy; Guang Ning | Zendy; M Kellis | Zendy

Open Access

Phenotype-Genotype Correlation in Eight Chinese 17α-Hydroxylase/17,20 Lyase-Deficiency Patients with Five Novel Mutations of CYP17A1 Gene

Author(s) -

Jun Yang,

Bin Cui,

Shouyue Sun,

Tieliu Shi,

Siyuan Zheng,

Yufang Bi,

Jianmin Liu,

Yongju Zhao,

Jialun Chen,

Guang Ning,

M Kellis

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-2283

Subject(s) - cyp17a1 , genotype phenotype distinction , genotype , genetics , context (archaeology) , mutation , haplotype , phenotype , gene , biology , medicine , paleontology

P450c17 deficiency (17OHD), caused by mutation in CYP17A1 gene, is characterized by severe hypertension-hypokalemia, sexual infantilism in females, and pseudohermaphroditism in males. We investigated eight Chinese 17OHD patients with five novel mutations of CYP17A1 gene and analyzed phenotype-genotype correlation in a patient with regular menses and seven others with classic presentations by in vitro expression and computer modeling.

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