Two novel heterozygous mutations in the CYP17A1 gene in a Chinese patient with 17 α-hydroxylase 17,20-lyase deficiency.

In conclusion, we discovered two novel heterozygous CYP17A1 mutations Ile381Thr (c.1142T>C) and Ser168del (c.503_505delCCT) in a Chinese patient with 17-OHD. PMID: 30695673 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/30695673?dopt=Abstract

Source: Discovery Medicine - January 31, 2019 Category: Research Tags: Discov Med Source Type: research