Title : Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.

Pub. Date : 2018 Sep

PMID : 30229581






1 Functional Relationships(s)
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1 And the activities of 17alpha-hydroxylase and 17,20-lyase of CYP17A1 were evaluated by measuring the conversion of progesterone to 17alpha-hydroxyprogesterone and of 17alpha-hydroxypregnenolone to dehydroepiandrosterone, respectively. 17-alpha-Hydroxypregnenolone cytochrome P450 family 17 subfamily A member 1 Homo sapiens