Title : Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.

Pub. Date : 2005 Nov

PMID : 16176874






1 Functional Relationships(s)
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1 Analysis of the CYP17 gene by polymerase chain reaction amplification and direct sequencing demonstrated a novel homozygous mutation of codon 440 from CGC (Arg) to TGC (Cys) in both patients. Arginine cytochrome P450 family 17 subfamily A member 1 Homo sapiens