Article
A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2017
Gershoni Moran, Hauser Ron, Yogev Leah, Lehavi Ofer, Azem Foad, Yavetz Haim, Pietrokovski Shmuel, Kleiman Sandra E
Abstract excerpt
PURPOSE: Up to 1% of all men experience azoospermia, a condition of complete absence of sperm in the semen. The mechanisms and genes involved in spermatogenesis are mainly studied in model organisms, and their relevance to humans is unclear because human genetic studies are very scarce. Our objective was to uncover novel human mutations and genes causing azoospermia due to testicular meiotic maturation arrest....
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