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- Title
A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.
- Authors
HAMID, MOHAMMAD; KARIMIPOOR, MORTEZA; CHALESHTORI, MORTEZA HASHEMZADEH; AKBARI., MOHAMMAD TAGHI
- 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.
- Subjects
IRAN; GAP junctions (Cell biology); GENETIC mutation; DEAF people; HEARING disorders; CONNEXINS
- Publication
Journal of Genetics, 2009, Vol 88, Issue 3, p359
- ISSN
0022-1333
- Publication type
Article
- DOI
10.1007/s12041-009-0054-6