Article
Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.
Human molecular genetics - 1 Oct 2015
Okutman Ozlem, Muller Jean, Baert Yoni, Serdarogullari Munevver, Gultomruk Meral, Piton Amélie, Rombaut Charlotte, Benkhalifa Moncef, Teletin Marius, Skory Valerie, Bakircioglu Emre, Goossens Ellen, Bahceci Mustafa, Viville Stéphane
Abstract excerpt
Infertility is a global healthcare problem, and despite long years of assisted reproductive activities, a significant number of cases remain idiopathic. Our currently restricted understanding of basic mechanisms driving human gametogenesis severely limits the improvement of clinical care for infertile patients. Using exome sequencing, we identified a nonsense mutation leading to a premature stop in the TEX15...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
