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A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.
- Source :
-
Journal of Genetics . Dec2009, Vol. 88 Issue 3, p359-362. 4p. 2 Charts, 1 Graph. - Publication Year :
- 2009
-
Abstract
- The article discusses a study that aims to evaluate the type and frequency of gap junction beta 2 (GJB2) gene mutations in Iranian patients with non-syndromic hereditary hearing loss (NSHHL). It notes mutations in connexin 26 are responsible for nearly 50% of autosomal-recessive hearing loss cases. Among the mutations that were diagnosed in 16 deaf patients are 35delG, R127H and a novel 355-357delGAG. According to the study, the most common deafness-causing mutation in the Iranian population is the 35delG mutation.
Details
- Language :
- English
- ISSN :
- 00221333
- Volume :
- 88
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Journal of Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 47733058
- Full Text :
- https://doi.org/10.1007/s12041-009-0054-6