A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
Sign Up to like & getrecommendations! Published in 2018 at "Neural Plasticity"
DOI: 10.1155/2018/7272308
Abstract: Genetic hearing impairment is highly heterogeneous. In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. Consistent with… read more here.
Keywords: chinese han; ildr1; two chinese; deafness ... See more keywords