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