Articles with "homozygous loss" as a keyword



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A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSĪ³ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23126522

Abstract: Non-obstructive azoospermia (NOA), characterized by spermatogenesis failure and the absence of sperm in ejaculation, is the most severe form of male infertility. However, the etiology and pathology between meiosis-associated monogenic alterations and human NOA remain… read more here.

Keywords: loss function; noa; function mutation; msh5 ... See more keywords