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Article

Identification of a novel mutation in CYP17A1 gene.

Translational research : the journal of laboratory and clinical medicine - 1 Jan 2013

Xue Li-Qiong, Han Bing, Chen Li-Bo, Pan Chun-Ming, Zhu Hui, Liu Bing-Li, Liu Wei, Wu Wan-Ling, Chen Ming-Dao, Lu Ying-Li, Qiao Jie, Song Huai-Dong

Abstract excerpt

17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive genetic disease that is characterized by low-renin hypertension, hypokalemia, and abnormal development of the genitalia. Mutations in the CYP17A1 gene account for this disease. We aim to investigate the CYP17A1 mutation...

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Source

Identifiers

PMID: 23036723
DOI: 10.1016/j.trsl.2012.08.007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23036723-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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