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Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus

PURPOSE: Gene identification in small families segregating autosomal dominant sensorineural hearing loss presents a significant challenge. To address this challenge, we have developed a machine learning based software tool, AudioGene v2.0, to prioritize candidate genes for mutation screening based o...

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Detalhes bibliográficos
Main Authors: Hildebrand, Michael S., Tack, Dylan, McMordie, Sarah J., DeLuca, Adam, Hur, In Ae, Nishimura, Carla, Huygen, Patrick, Casavant, Thomas L., Smith, Richard J.H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3337550/
https://ncbi.nlm.nih.gov/pubmed/18941426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e318187e106
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