Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import

作者：Xiang Wang, Mei Xue, Minggang Zhao, Fang He, Li Cui, Xu Li · 发表于：Gene · 年份：2018 · DOI：10.1016/j.gene.2018.01.076 · 被引用次数：14 · 研究领域：Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities、Sexual Differentiation and Disorders、Sperm and Testicular Function