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

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

Abstract 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 i...

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Autores principales: Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, Heon Yung Gee
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
Materias:
Non-syndromic Hearing Loss
Autosomal Dominant Non-syndromic Deafness (DFNA2)
KCNQ Channels
Retigabine
Strong Dominant-negative Effect
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/558c537c36fb4883a39a87434fd1dd89
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https://doaj.org/article/558c537c36fb4883a39a87434fd1dd89

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