Genetic analysis of the cytochrome P-450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α-hydroxylase deficiency-Reference-Cited by-同舟云学术

Genetic analysis of the cytochrome P-450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α-hydroxylase deficiency

Published:2001-06 Issue:6 Volume:54 Page:751-758
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:

Author:

Takeda Yoshiyu,Yoneda Takashi,Demura Masashi,Furukawa Kenji,Koshida Hideo,Miyamori Isamu,Mabuchi Hiroshi

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.2001.01272.x/fullpdf

Reference41 articles.

1. Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations;Auchus;Molecular Endocrinology,1999

2. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lysase deficiency;Biason-Lauber;Journal of Clinical Endocrinology and Metabolism,1997

3. 17α-Hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation;Biason-Lauber;Journal of Clinical Endocrinology and Metabolism,2000

4. 17α-Hydroxylation deficiency in man;Biglieri;Journal of Clinical Investigations,1966

5. Characterization of complementary deoxyribonucleic acid for human adrenocortical 17α-hydroxylase: a probe for analysis of 17α-hydroxylase deficiency;Bradshaw;Molecular Endocrinology,1987

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