Article ID Journal Published Year Pages File Type
4115217 International Journal of Pediatric Otorhinolaryngology 2006 10 Pages PDF
Abstract
This study represents the largest number of biallelic GJB2 mutations isolated in a group of paediatric cochlear implant users to date. Numerous and diverse GJB2 mutations were found in this multi-cultural group of children. Even though GJB2 mutations have been widely reported in the literature, this discussion represents the first report of GJB2 mutations in a multi-ethnic population (Canadian), as compared with previous studies that investigated fairly homogeneous populations. The diversity of GJB2 mutations identified reinforces the importance of testing for changes in GJB2 by direct sequencing of the entire coding region rather than testing only for common mutations.
Related Topics
Health Sciences Medicine and Dentistry Otorhinolaryngology and Facial Plastic Surgery
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