Associated Papers
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.
Mo EY et al.
Endocrinology and Metabolism (seoul, Korea), 2018
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH et al.
Molecular and Cellular Endocrinology, 2017
CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
Wang YP et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM et al.
Metabolism: Clinical and Experimental, 2014
A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
Lee ES et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].
Jiang Y et al.
Zhonghua Yi Xue Za Zhi, 2011
Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.
Katsumata N et al.
Metabolism: Clinical and Experimental, 2010
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