Title : A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.

Pub. Date : 2012 Mar

PMID : 22170710






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1 Detailed review of previously reported cases with apparently isolated 17,20 lyase deficiency due to mutant CYP17A1 and POR reveals impaired 17alpha-hydroxylase activity as assessed by steroid metabolome analysis and short cosyntropin testing. Steroids cytochrome P450 family 17 subfamily A member 1 Homo sapiens