A homozygous missense variant in causes non-obstructive azoospermia in humans

HIGHLIGHTS

  • who: DND et al. from the Suzhou Municipal Hospital, China University of Guelph, Canada have published the article: A homozygous missense variant in causes non-obstructive azoospermia in humans, in the Journal: (JOURNAL)
  • what: The authors investigated a Pakistani family, having three infertile brothers suffering from NOA and male infertility . The authors identified a novel DND1 variant (E71A) causing azoospermia, similar to previous observations that P76L mutation resulted in the absence of germ cells in the small testes in mice. Similar to previous studies, the study showed that the new DND1 mutation in E71A disrupted . . .

     

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