Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development

BACKGROUND: Over 100 mutations in the SRD5A2 gene have been identified in subjects with 46,XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and elucidation of the molecular mechanisms behind their effects should reveal the functions of the domains of the 5α-reductase 2 enzyme an...

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Detalles Bibliográficos
Autores principales: Li, Liwei, Zhang, Junhong, Li, Qing, Qiao, Li, Li, Pengcheng, Cui, Yi, Li, Shujun, Hao, Shirui, Wu, Tongqian, Liu, Lili, Yin, Jianmin, Hu, Pingsheng, Dou, Xiaowei, Li, Shuping, Yang, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944008/
https://www.ncbi.nlm.nih.gov/pubmed/35331321
http://dx.doi.org/10.1186/s13052-022-01243-4

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