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Whole-exome sequencing identifiesMYO15Amutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

✍ Scribed by Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park…


Book ID
120679330
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
660 KB
Volume
14
Category
Article
ISSN
1471-2350

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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