Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

Five missense mutations in the FCH/LCCL domain of the COCH gene, encoding the protein cochlin, are pathogenic for the autosomal dominant hearing loss and vestibular dysfunction disorder, DFNA9. To date, the function of cochlin and the mechanism of pathogenesis of the mutations are unknown. We have u...

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Bibliographic Details
Main Authors: Robertson, N, Hamaker, S, Patriub, V, Aster, J, Morton, C
Format: Artigo
Language:Inglês
Published: BMJ Group 2003
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735525/
https://ncbi.nlm.nih.gov/pubmed/12843317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.7.479
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