Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. We have identified Diaphanous homolog 3 (DIAPH3) as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), w...

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Detalhes bibliográficos
Main Authors: Schoen, Cynthia J., Emery, Sarah B., Thorne, Marc C., Ammana, Hima R., Śliwerska, Elżbieta, Arnett, Jameson, Hortsch, Michael, Hannan, Frances, Burmeister, Margit, Lesperance, Marci M.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2010
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2922180/
https://ncbi.nlm.nih.gov/pubmed/20624953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1003027107
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