A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss

Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically heterogeneous with more than 35 genes identified to date. Using a massively parallel sequencing panel targeting 159 deafness genes, we identified a novel missense variant of POU4F3 (c.982A>G, p.Lys328Glu) which co-segregated wi...

Descripción completa

Detalles Bibliográficos
Autores principales: Lin, Yin-Hung, Lin, Yi-Hsin, Lu, Ying-Chang, Liu, Tien-Chen, Chen, Chien-Yu, Hsu, Chuan-Jen, Chen, Pei-Lung, Wu, Chen-Chi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548901/
https://www.ncbi.nlm.nih.gov/pubmed/28790396
http://dx.doi.org/10.1038/s41598-017-08236-y

Ejemplares similares

Ejemplares similares