Mutations in the Connexin 26 Gene ( GJB2 ) among Ashkenazi Jews with Nonsyndromic Recessive Deafness
β Scribed by Morell, Robert J.; Kim, Hung Jeff; Hood, Linda J.; Goforth, Leah; Friderici, Karen; Fisher, Rachel; Van Camp, Guy; Berlin, Charles I.; Oddoux, Carole; Ostrer, Harry; Keats, Bronya; Friedman, Thomas B.; Agustin, Theresa San; Dumon, Jan
- Book ID
- 118128486
- Publisher
- Massachusetts Medical Society
- Year
- 1998
- Tongue
- English
- Weight
- 106 KB
- Volume
- 339
- Category
- Article
- ISSN
- 0096-6762
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π SIMILAR VOLUMES
We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP metho
Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients