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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

✍ Scribed by Margit Schraders; Laura Ruiz-Palmero; Ersan Kalay; Jaap Oostrik; Francisco J. del Castillo; Orhan Sezgin; Andy J. Beynon; Tim M. Strom; Ronald J.E. Pennings; Celia Zazo Seco; Anne M.M. Oonk; Henricus P.M. Kunst; María Domínguez-Ruiz; Ana M. García-Arumi; Miguel del Campo; Manuela Villamar; Lies H. Hoefsloot; Felipe Moreno; Ronald J.C. Admiraal; Ignacio del Castillo; Hannie Kremer


Book ID
119184399
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
652 KB
Volume
91
Category
Article
ISSN
0002-9297

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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