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Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice

✍ Scribed by Scott M. Wilson; Deborah B. Householder; Vincenzo Coppola; Lino Tessarollo; Bernd Fritzsch; E-Chiang Lee; Dee Goss; George A. Carlson; Neal G. Copeland; Nancy A. Jenkins


Book ID
115615456
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
386 KB
Volume
74
Category
Article
ISSN
0888-7543

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Identification of mutations in the conne
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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