Title : [Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].

Pub. Date : 2020 Sep 10

PMID : 32820515






1 Functional Relationships(s)
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1 RESULTS: Sanger sequencing revealed that the patient has carried homozygous variant c.1486C>T in the exon 8 of the CYP17A1 gene, which resulted in substitution of arginine by cysteine (p.Arg496Cys). Cysteine cytochrome P450 family 17 subfamily A member 1 Homo sapiens