Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.

CONCLUSION: Presence of such mutation and polymorphism is a significant indicator of 5αRD2 deficiency in Southeast region of Turkey where consanguineous marriage is highly common. PMID: 26761946 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/26761946?dopt=Abstract

Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research