Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

OBJECTIVE: To investigate the genetic cause of nonobstructive azoospermia (NOA) in a consanguineous Turkish family through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations. DESIGN: Whole-exome sequencing SETTING: Research laboratory PATIENT(S): We...

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Publicado no:Fertil Steril
Main Authors: Ramasamy, Ranjith, Bakircioğlu, M. Emre, Cengiz, Cenk, Karaca, Ender, Scovell, Jason, Jhangiani, Shalini N., Akdemir, Zeynep C., Bainbridge, Matthew, Yu, Yao, Huff, Chad, Gibbs, Richard A., Lupski, James R., Lamb, Dolores J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4522373/
https://ncbi.nlm.nih.gov/pubmed/25956372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.fertnstert.2015.04.001
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