Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment

KCNQ4 is frequently mutated in autosomal dominant non-syndromic hearing loss (NSHL), a typically late-onset, initially high-frequency loss that progresses over time (DFNA2). Most KCNQ4 mutations linked to hearing loss are clustered around the pore region of the protein and lead to loss of KCNQ4-medi...

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Bibliografske podrobnosti
izdano v:Exp Mol Med
Main Authors: Jung, Jinsei, Lin, Haiyue, Koh, Young Ik, Ryu, Kunhi, Lee, Joon Suk, Rim, John Hoon, Choi, Hye Ji, Lee, Hak Joon, Kim, Hye-Youn, Yu, Seyoung, Jin, Hyunsoo, Lee, Ji Hyun, Lee, Min Goo, Namkung, Wan, Choi, Jae Young, Gee, Heon Yung
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2019
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6802650/
https://ncbi.nlm.nih.gov/pubmed/31434872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s12276-019-0300-9
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