Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4161397/
https://ncbi.nlm.nih.gov/pubmed/25211151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0107326
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !