Title : Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency.

Pub. Date : 2011 Oct

PMID : 21550081






1 Functional Relationships(s)
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1 These results, which indicate that Ala 82 and Cys 442 are crucial for both 17-hydroxylase and 17,20-lyase activities, help define the structure-function relationship of the CYP17A1 gene. Cysteine cytochrome P450 family 17 subfamily A member 1 Homo sapiens