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Genetic Analysis of the SRD5A2 Gene in Indian Patients with 5α-Reductase Deficiency.
- Source :
- Journal of Pediatric Endocrinology & Metabolism; Mar2009, Vol. 22 Issue 3, p247-254, 8p, 2 Diagrams, 2 Charts
- Publication Year :
- 2009
-
Abstract
- The article analyzes the clinical features and mutations in the steroid 5α-reductase type 2 gene (SRD5A2) in Indian patients with 5α-reductase deficiency (5RD). The SRD5A2 gene was sequenced in two patients with elevated testosterone ratio and in another patient with classical clinical features and virilization at puberty. The study concluded that p.R246Q is a common SRD5A2 mutation in 5RD patients in India.
Details
- Language :
- English
- ISSN :
- 0334018X
- Volume :
- 22
- Issue :
- 3
- Database :
- Supplemental Index
- Journal :
- Journal of Pediatric Endocrinology & Metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 48549565
- Full Text :
- https://doi.org/10.1515/JPEM.2009.22.3.247