Article
Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
Endocrine journal - 27 Jun 2018
Jia Wenyu, Zheng Dongmei, Zhang Liya, Li Changzhong, Zhang Xu, Wang Fei, Guan Qingbo, Fang Li, Zhao Jiajun, Xu Chao
Abstract excerpt
Early diagnosis and optimal management for steroid 5α-reductase type 2 deficiency (5α-RD2) patients are major challenges for clinicians and mutation analysis for the 5α-reductase type 2 (SRD5A2) gene is the golden standard for the diagnosis of the disease. In silico analysis of this enzyme has not been reported due to the lack of appropriate model. Moreover, the histological and pathological changes of the gonads...
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