Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. USH2A was firstly described as consisting of 21 exons, but 52 novel exons at the 3' end of the gene were recently identif...

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Detalhes bibliográficos
Main Authors: Aller, E, Jaijo, T, Beneyto, M, Nájera, C, Oltra, S, Ayuso, C, Baiget, M, Carballo, M, Antiñolo, G, Valverde, D, Moreno, F, Vilela, C, Collado, D, Pérez‐Garrigues, H, Navea, A, Millán, J M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Online Mutation Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563181/
https://ncbi.nlm.nih.gov/pubmed/17085681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.041764
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