Article
Identification of potentially damaging amino acid substitutions leading to human male infertility.
Biology of reproduction - 1 Aug 2009
Kuzmin Anastasia, Jarvi Keith, Lo Kirk, Spencer Leia, Chow Gary Y C, Macleod Graham, Wang Qianwei, Varmuza Susannah
Abstract excerpt
There are a number of known genetic alterations found in men with nonobstructive azoospermia, or testicular failure, such as Y microdeletions and cytogenetic abnormalities. However, the etiology of nonobstructive azoospermia is unknown in the majority of men. The aim of this study was to investigate the possibility that unexplained cases of nonobstructive azoospermia are caused by nonsynonymous single-nucleotide...
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