Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

OBJECTIVE: Deficiency of steroid 5-alpha reductase type 2 (5αRD2) 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 testosterone into dihydrotestosterone, leads to disorders of sex development. This st...

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Detalles Bibliográficos
Autores principales: Eren, Erdal, Edgünlü, Tuba, Asut, Emre, Karakaş Çelik, Sevim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096479/
https://www.ncbi.nlm.nih.gov/pubmed/26761946
http://dx.doi.org/10.4274/jcrpe.2495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096479/
https://www.ncbi.nlm.nih.gov/pubmed/26761946
http://dx.doi.org/10.4274/jcrpe.2495

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