Title : Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.

Pub. Date : 2009 Aug

PMID : 19454579






1 Functional Relationships(s)
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1 OBJECTIVE: 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. 17ohd cytochrome P450 family 17 subfamily A member 1 Homo sapiens