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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2011
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678402/
https://www.ncbi.nlm.nih.gov/pubmed/22135276
http://dx.doi.org/10.1136/jmedgenet-2011-100468

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678402/
https://www.ncbi.nlm.nih.gov/pubmed/22135276
http://dx.doi.org/10.1136/jmedgenet-2011-100468

Ejemplares similares