Yazar "Asut, Emre" için listeleme
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Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency
Eren, Erdal; Edgünlü, Tuba; Asut, Emre; Çelik, Sevim Karakaş (Galenos Yayincilik, 2016)Objective: Deficiency of steroid 5-alpha reductase type 2 (5 alpha RD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of ...