Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I–III) and nine Usher genes identified. This study is a...

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Detalhes bibliográficos
Main Authors: Le Quesne Stabej, Polona, Saihan, Zubin, Rangesh, Nell, Steele-Stallard, Heather B, Ambrose, John, Coffey, Alison, Emmerson, Jenny, Haralambous, Elene, Hughes, Yasmin, Steel, Karen P, Luxon, Linda M, Webster, Andrew R, Bitner-Glindzicz, Maria
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2011
Assuntos:
Genotype-Phenotype Correlations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3678402/
https://ncbi.nlm.nih.gov/pubmed/22135276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100468
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