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ERCC6 founder mutation identified in Finnish patients with COFS syndrome

✍ Scribed by E Jaakkola; A Mustonen; P Olsen; S Miettinen; T Savuoja; A Raams; NGJ Jaspers; H Shao; BL Wu; J Ignatius


Book ID
110889032
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
679 KB
Volume
78
Category
Article
ISSN
0009-9163

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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