Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss


Connexins (CXs), a large family of membrane proteins, are key components of gap junction channels. Among a cohort of patients with nonsyndromic hearing loss, we have recently identified three novel missense mutations in the GJA1 gene and GJA1 pseudogene (ρGJA1) as likely being causally related to hearing loss. However, the functional alteration of CX43… (More)
DOI: 10.1007/s00439-010-0791-x


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