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Article

Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL).

International journal of pediatric otorhinolaryngology - 1 Dec 2011

Bonyadi Mortaza, Fotouhi Nikou, Esmaeili Mohsen

Abstract excerpt

OBJECTIVE: Mutations in the GJB2 gene has been reported as a main cause for autosomal recessive non-syndromic hearing loss (ARNSHL) all over the world. IVS1+1G>A which is splice site mutation have been detected in several populations as disruptive mutation. This study has intended to assess the significance of this mutation, IVS1+1G>A, to the autosomal recessive non-syndromic genetic load among Iranian Azeri...

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Source

Identifiers

PMID: 22000900
DOI: 10.1016/j.ijporl.2011.09.024

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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