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In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss

BACKGROUND: Mutation of the voltage-gated potassium channel KCNQ4 causes DFNA2-type nonsyndromic autosomal dominant sensorineural hearing loss. KCNQ4 is expressed predominantly in the auditory sensory outer hair cells, which are critical for sound amplification. RESULTS: We sequenced KCNQ4 from Japa...

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Autors principals: Namba, Kazunori, Mutai, Hideki, Kaneko, Hiroki, Hashimoto, Sho, Matsunaga, Tatsuo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3374714/
https://ncbi.nlm.nih.gov/pubmed/22420747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-5-145
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