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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Fertil Steril
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2015
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge