A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency-Reference-Cited by-同舟云学术

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A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency

Published:2003-04 Issue:4 Volume:52 Page:488-492
ISSN:0026-0495
Container-title:Metabolism
language:en
Short-container-title:Metabolism

Author:

Hahm Jong Ryeal,Kim Deok Ryong,Jeong Dong Kee,Chung Jae Hoon,Lee Myung-Shik,Min Yong-Ki,Kim Kwang-Won,Lee Moon-Kyu

Publisher

Elsevier BV

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells;Zuber;Science,1986

2. Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: A probe for analysis of 17 alpha-hydroxylase deficiency;Bradshaw;Mol Endocrinol,1987

3. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): Cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues;Chung;Proc Natl Acad Sci USA,1987

4. 17-Alpha-hydroxylase/17,20-lyase deficiency: From clinical investigation to molecular definition;Yanase;Endocr Rev,1991

5. A new compound heterozygous mutation (W17X, 436+5G-to-T) in the cytochrome P450c17 gene causes 17-alpha-hydroxylase/ 17,20-lyase deficiency;Suzuki;J Clin Endocrinol Metab,1998

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion;Discovery Medicine;2024

2. Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report;Medicine;2023-12-29

3. Full-term live birth in a woman with 17α-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report;BMC Women's Health;2023-08-04

4. Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review;Frontiers in Endocrinology;2022-12-15

5. Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients;Frontiers in Endocrinology;2022-12-15

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