Wufang Fan Bei Wang Shanshan He Tengfei Zhang Chenxing Yin Yunping Chen Shuqi Zheng Jixia Zhang Lin Li
10.1371/journal.pone.0168484
PLoS One
2016 Dec 28;11(12):e0168484.
CC BY
https://pubmed.ncbi.nlm.nih.gov/28030592/
Active Transport, Cell Nucleus / genetics Gonadal Dysgenesis, 46,XY / genetics Gonadal Dysgenesis, 46,XY / pathology Mutation, Missense / genetics Open Reading Frames / genetics Sex-Determining Region Y Protein / genetics
Active Transport, Cell Nucleus / genetics Gonadal Dysgenesis, 46,XY / genetics Gonadal Dysgenesis, 46,XY / pathology Mutation, Missense / genetics Open Reading Frames / genetics Sex-Determining Region Y Protein / genetics Case Reports Adult Female Humans Young Adult SRY protein, human Sex-Determining Region Y Protein
PMC5193406
28030592
A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis
2016