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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226507/
https://www.ncbi.nlm.nih.gov/pubmed/30413759
http://dx.doi.org/10.1038/s41598-018-34876-9

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