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Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5α-reductase type 2 gene (SRD5A2). The 5α-reductase activities of three...

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Detalles Bibliográficos
Autores principales:	Cheng, Tong, Wang, Hao, Han, Bing, Zhu, Hui, Yao, Hai-Jun, Zhao, Shuang-Xia, Zhu, Wen-Jiao, Zhai, Hua-Ling, Chen, Fu-Guo, Song, Huai-Dong, Cheng, Kai-Xiang, Liu, Yang, Qiao, Jie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859664/ https://www.ncbi.nlm.nih.gov/pubmed/31031332 http://dx.doi.org/10.4103/aja.aja_113_18

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