A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction

Mutations in COCH (coagulation factor C homology) are etiologic for the late-onset, progressive, sensorineural hearing loss and vestibular dysfunction known as DFNA9. We introduced the G88E mutation by gene targeting into the mouse and have created a Coch(G88E/G88E) mouse model for the study of DFNA...

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Autors principals: Robertson, Nahid G., Jones, Sherri M., Sivakumaran, Theru A., Giersch, Anne B.S., Jurado, Sara A., Call, Linda M., Miller, Constance E., Maison, Stéphane F., Liberman, M. Charles, Morton, Cynthia C.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2008
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2566528/
https://ncbi.nlm.nih.gov/pubmed/18697796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn236
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