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A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

✍ Scribed by S. Edvardson; C. Jalas; A. Shaag; S. Zenvirt; C. Landau; I. Lerer; O. Elpeleg


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
97 KB
Volume
155
Category
Article
ISSN
1552-4825

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Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc