1 results match your criteria: "Hungary. gal.aniko@med.semmelweis-univ.hu.[Affiliation]"
Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.
Eur Arch Otorhinolaryngol
October 2018
Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömö utca 25-29, Budapest, 1083, Hungary.
Purpose: Pathogenic variants of the gap junction beta 2 (GJB2) gene are responsible for about 50% of hereditary non-syndromic sensorineural hearing loss (NSHL). In this study, we report mutation frequency and phenotype comparison of different GJB2 gene alterations in Hungarian NSHL patients.
Methods: The total coding region of the GJB2 gene was analyzed with Sanger or NGS sequencing for 239 patients with NSHL and 160 controls.