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• W1982145211 abstract "Mutations in GJB2 gene (encoding connexin 26) are the most common cause of hereditary non-syndromic sensorineural hearing loss (NSSHL) in different populations. The majority of GJB2 mutations are recessive, but a few dominant mutations have been associated with hearing loss either isolated or associated with skin disease. We describe a novel dominant pathogenic GJB2 mutation, identified in a Portuguese family affected with bilateral mild/moderate high-frequency NSSHL. In vitro functional studies demonstrate that the mutant protein (p.M163L) has defective trafficking to the plasma membrane and is associated with increased cell death." @default.
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• W1982145211 date "2008-06-01" @default.
• W1982145211 modified "2023-10-14" @default.
• W1982145211 title "A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss" @default.
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• W1982145211 doi "https://doi.org/10.1016/j.heares.2008.03.004" @default.
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