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- Title
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
- Authors
Estivill, X; Fortina, P; Surrey, S; Rabionet, R; Melchionda, S; D'Agruma, L; Mansfield, E; Rappaport, E; Govea, N; Milà, M; Zelante, L; Gasparini, P
- Abstract
Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is inherited or apparently sporadic. We have shown previously that DFNB1 on chromosome 13 is a major locus for recessive deafness in about 80% of Mediterranean families and that the connexin-26 gene gap junction protein beta2 (GJB2) is mutated in DFNB1 families. We investigated mutations in the GJB2 gene in familial and sporadic cases of deafness.
- Publication
Lancet (London, England), 1998, Vol 351, Issue 9100, p394
- ISSN
0140-6736
- Publication type
Journal Article
- DOI
10.1016/S0140-6736(97)11124-2