Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.

Study Question: Can whole-exome sequencing (WES) reveal pathogenic mutations in two consanguineous Pakistani families with infertile patients?Summary Answer: A homozygous spermatogenesis associated 22 (SPATA22) frameshift mutation (c.203del), which disrupts the interaction with meiosis specific with...

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Publicado en:	Human Reproduction Vol. 36; no. 10; pp. 2793 - 2805
Autores principales:	Wu, Yufan, Li, Yang, Murtaza, Ghulam, Zhou, Jianteng, Jiao, Yuying, Gong, Chenjia, Hu, Congyuan, Han, Qiqi, Zhang, Huan, Zhang, Yuanwei, Shi, Baolu, Ma, Hui, Jiang, Xiaohua, Shi, Qinghua
Formato:	research tables/charts Journal Article
Publicado:	Oxford University Press / USA Oct2021
Acceso en línea:	Ver este registro en EBSCOhost