A compound heterozygous mutation in the CYP17 (17α-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference18 articles.
1. The adrenal cortex;Stewart,2002
2. 17 Alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition;Yanase;Endocr Rev,1991
3. 17-Hydroxylase: an evaluation of the present view of its catalytic role in steroidogenesis;Lieberman;J Steroid Biochem,2001
4. Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations;Auchus;Mol Endocrinol,1999
5. Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25;Sparkes;DNA Cell Biol,1991
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2. Molecular regulation of steroidogenesis in endocrine Leydig cells;Steroids;2015-11
3. 17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension;Turkish Journal of Endocrinology and Metabolism;2014-12-05
4. Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency;Gynecological Endocrinology;2014-07-16
5. Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients;Gene;2013-03
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