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A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

✍ Scribed by KO Yariz; T Walsh; H Akay; D Duman; AC Akkaynak; M-C King; M Tekin


Book ID
110889249
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
690 KB
Volume
81
Category
Article
ISSN
0009-9163

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Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e