Article
An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family.
Clinical genetics - 1 May 2020
Tu Chaofeng, Wang Ying, Nie Hongchuan, Meng Lanlan, Wang Weili, Li Yong, Li Dongyan, Zhang Huan, Lu Guangxiu, Lin Ge, Tan Yue-Qiu, Du Juan
Abstract excerpt
Severe oligozoospermia (SO) is an important cause of male infertility. Its etiology and pathogenesis are associated with genetic abnormalities; however, the genetic causes of the majority of idiopathic human SO remain unclear. Here, we report a homozygous splice-site mutation in M1AP (meiosis 1 associated protein; NM_138804, c.1435-1G>A) observed in a patient with SO from a consanguineous Han Chinese family. His...
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