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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Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2018
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Article
Accesso online: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
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