A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy-Reference-Cited by-同舟云学术

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Published:2008-06 Issue:6 Volume:29 Page:823-831
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Rodríguez-Ballesteros Montserrat,Reynoso Raúl,Olarte Margarita,Villamar Manuela,Morera Constantino,Santarelli Rosamaria,Arslan Edoardo,Medá Carme,Curet Carlos,Völter Christiane,Sainz-Quevedo Manuel,Castorina Pierangela,Ambrosetti Umberto,Berrettini Stefano,Frei Klemens,Tedín Socorro,Smith Janine,Cruz Tapia M.,Cavallé Laura,Gelvez Nancy,Primignani Paola,Gómez-Rosas Elena,Martín Mirta,Moreno-Pelayo Miguel A.,Tamayo Martalucía,Moreno-Barral José,Moreno Felipe,del Castillo Ignacio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss;Álvarez;Am J Med Genet,2005

3. Auditory neuropathy: a brief review;Cone-Wesson;Curr Opin Otolaryngol,2000

4. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing impaired subjects: a multicenter study;del Castillo;Am J Hum Genet,2003

5. A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment;del Castillo;J Med Genet,2005

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