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- W2247489259 abstract "Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap junction beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf population. For this purpose, 130 chromosomes from 65 patients were studied and 35delG mutation was diagnosed in 3 (2.3%) chromosomes (1 patient was homozygote and the other one was heterozygote). This rate of frequency is significantly higher comparing to that in the whole population of Iran.Keywords: Autosomal recessive non-syndromic hearing loss (ARNSHL), GJB2, 35delG" @default.
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- W2247489259 date "2004-01-01" @default.
- W2247489259 modified "2023-09-28" @default.
- W2247489259 title "RELATIVE FREQUENCY OF 35DELG MUTATION IN GJB2 GENE IN AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS (ARNSHL) PATIENTS IN KERMAN POPULATION" @default.
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