Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing

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 reported mutation...

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Veröffentlicht in:PloS one 2014-09, Vol.9 (9), p.e107326-e107326
Hauptverfasser: Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima
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Sprache:eng
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