Expressivity of hearing loss in cases with Usher syndrome type IIA
Author:
Publisher
Informa UK Limited
Subject
Speech and Hearing,Linguistics and Language,Language and Linguistics
Link
http://www.tandfonline.com/doi/pdf/10.3109/14992027.2013.839885
Reference37 articles.
1. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
2. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes
3. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
4. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
5. A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure
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