Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss

Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to a type of nonsyndromic hearing loss, deafness nonsyndromic autosomal dominant 2 (DFNA2). We performed whole-exome sequencing for 98 families with hearing loss and found mutations in KCNQ4 in five fa...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Sci Rep
Main Authors: Jung, Jinsei, Choi, Hyun Been, Koh, Young Ik, Rim, John Hoon, Choi, Hye Ji, Kim, Sung Huhn, Lee, Jae Hyun, An, Jieun, Kim, Ami, Lee, Joon Suk, Joo, Sun Young, Yu, Seyoung, Choi, Jae Young, Kang, Tong Mook, Gee, Heon Yung
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2018
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6226507/
https://ncbi.nlm.nih.gov/pubmed/30413759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-34876-9
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares