Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous condition with ten disease-causing genes. The spectrum of genes and mutations causing USH in the Lebanese and Middle Eastern populations has not been described. Consequently, diagnostic approaches designed to screen for previously repor...

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Detalles Bibliográficos
Autores principales: Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161397/
https://www.ncbi.nlm.nih.gov/pubmed/25211151
http://dx.doi.org/10.1371/journal.pone.0107326

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161397/
https://www.ncbi.nlm.nih.gov/pubmed/25211151
http://dx.doi.org/10.1371/journal.pone.0107326

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