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

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

Abstract 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 e...

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Bibliographic Details
Main Authors: Liwei Li, Junhong Zhang, Qing Li, Li Qiao, Pengcheng Li, Yi Cui, Shujun Li, Shirui Hao, Tongqian Wu, Lili Liu, Jianmin Yin, Pingsheng Hu, Xiaowei Dou, Shuping Li, Hui Yang
Format: Article
Language:English
Published: BMC 2022-03-01
Series:Italian Journal of Pediatrics
Subjects:
46,XY DSD
SRD5A2
p.Q6X/p.H232R mutation
Dihydrotestosterone
5α-reductase 2 catalytic efficiency
Online Access:https://doi.org/10.1186/s13052-022-01243-4

Internet

https://doi.org/10.1186/s13052-022-01243-4

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