Title : Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.

Pub. Date : 2015 May

PMID : 25650406






1 Functional Relationships(s)
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1 CYP17A1 deficiency was suspected at 2 months on the basis of steroid analysis performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Steroids cytochrome P450 family 17 subfamily A member 1 Homo sapiens