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Article

Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.

International journal of pediatric otorhinolaryngology - 1 Apr 2010

Lazăr C, Popp R, Trifa A, Mocanu C, Mihut G, Al-Khzouz C, Tomescu E, Figan I, Grigorescu-Sido P

Abstract excerpt

OBJECTIVE: In Central and South-Eastern European countries, the most frequent mutation types responsible for congenital nonsyndromic sensorineural hearing loss (NSHL) are c.35delG and p.W24X (15-55.8% and 2.5-4.3%, respectively). The aim of the study was to determine for the first time in Romania the prevalence of c.35delG and p.W24X mutations in patients with NSHL. MATERIAL: 75 unrelated children with NSHL from...

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Identifiers

PMID: 20096468
DOI: 10.1016/j.ijporl.2009.12.015

Genes

GJB2

Provenance

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