A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

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 the recessive inheritance, cosegregation of the p.G14...

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Detalles Bibliográficos
Autores principales: Wang, Xueling, Wang, Longhao, Peng, Hu, Yang, Tao, Wu, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926476/
https://www.ncbi.nlm.nih.gov/pubmed/29849566
http://dx.doi.org/10.1155/2018/7272308

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926476/
https://www.ncbi.nlm.nih.gov/pubmed/29849566
http://dx.doi.org/10.1155/2018/7272308

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