Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5370" target="_blank" >RIV/00064203:_____/09:5370 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/09:5370
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene
Original language description
Steroid 17 alpha-hydroxylase (CYP17A1, alias P450c17) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The CYP17A1 enzyme catalyzes two distinct reactions, 17 alpha-hydroxylase and 17,20-lyase activities. The aim of the study was to analyze the structural and functional consequences of three novel (A174E, V178D, and L465P) and one previously reported (R440C) CYP17A1 mutation found in three patients clinically and biochemically presenting with 17OHD.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Clinical Endocrinology & Metabolism
ISSN
0021-972X
e-ISSN
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Volume of the periodical
94
Issue of the periodical within the volume
8
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
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UT code for WoS article
000268687700058
EID of the result in the Scopus database
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