Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
Bing HanTong ChengHui ZhuJie YuWen-Jiao ZhuHuai-Dong SongHaijun YaoJie QiaoPublished in: BioMed research international (2020)
We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population.