Title : [A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].

Pub. Date : 2008 Jun

PMID : 19040066






1 Functional Relationships(s)
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1 RESULTS: The CYP17 genes of the patients were proved to hold a homozygous mutation with a base deletion and a base transversion (TAC/AA) in exon 6, which produced a missense mutation of Tyr-->Lys at codon 329 and changed the open reading frame following this codon. Lysine cytochrome P450 family 17 subfamily A member 1 Homo sapiens