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Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

✍ Scribed by Luis Pablo Gravina; María Eugenia Foncuberta; María Eugenia Prieto; Jeniffer Garrido; Cristina Barreiro; Lilien Chertkoff

Book ID
116565463
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
159 KB
Volume
74
Category
Article
ISSN
0165-5876

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A deletion of at least 140 kb starting ~35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7 patients from 4 unrelated Jewish Ashkenazi families with non-syndromic hearing loss. These patients were heterozygous for one of the common mutations 167delT or 35delG in the GJB2 gene in tr