The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria
Author:
Affiliation:
1. Department of Otorhinolaryngology, Medical University of Vienna, Austria;
2. Department for Cell- and Developmental Biology, Medical University of Vienna, Austria
Funder
Oesterreichische Nationalbank
Publisher
Informa UK Limited
Subject
Otorhinolaryngology,General Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/00016489.2016.1249946
Reference21 articles.
1. Genetic epidemiology of complex phenotypes
2. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
3. Mapping and characterization of the basal promoter of the human connexin26 gene
4. Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene
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1. Connexin 26 (GJB2) Mutations Associated with Congenital Hearing Loss in a Country of Different Migration Routes: Turkey;Indian Journal of Otolaryngology and Head & Neck Surgery;2023-03-18
2. Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate;Egyptian Journal of Medical Human Genetics;2021-05-07
3. High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect;Genes;2020-07-21
4. The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas;The Journal of International Advanced Otology;2019-12-19
5. Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province;Molecular Genetics & Genomic Medicine;2019-01-28
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