A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.
Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ.
Chen T, et al.
Am J Hum Genet. 2017 Sep 7;101(3):459-465. doi: 10.1016/j.ajhg.2017.08.001.
Am J Hum Genet. 2017.
PMID: 28886344
Free PMC article.
Genome-wide linkage analyses and whole-exome sequencing revealed a paternally transmitted heterozygous missense mutation of c.400 G>A (p.Ala134Thr) in zona pellucida glycoprotein 3 (ZP3). The same mutation was identified in an unrelated EFS pedigree. ...Furthermo …
Genome-wide linkage analyses and whole-exome sequencing revealed a paternally transmitted heterozygous missense mutation of c.400 G&g …