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

Open Access

Peer-reviewed

Research Article

Ramesh Reddy,

Affiliation Departments of Human Genetics and Obstetrics-Gynecology, McGill University Health Centre, Montreal, Canada
⨯
Somayyeh Fahiminiya,

Affiliation McGill University and Genome Quebec Innovation Centre and Department of Human Genetics, Montreal, Canada
⨯
Elie El Zir,

Affiliation Department of Otorhinolaryngology, Hôpital Sacré-Coeur, Baabda, Lebanon
⨯
Ahmad Mansour,

Affiliation Department of Ophthalmology, American University of Beirut, Beirut, Lebanon
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Andre Megarbane,

Affiliation Unité de génétique médicale, Faculté de médecine, Université Saint Joseph, Beirut, Lebanon
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Jacek Majewski,

Affiliation McGill University and Genome Quebec Innovation Centre and Department of Human Genetics, Montreal, Canada
⨯
Rima Slim

* E-mail: rima.slim@muhc.mcgill.ca

Affiliation Departments of Human Genetics and Obstetrics-Gynecology, McGill University Health Centre, Montreal, Canada
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Mutation detection
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Gene sequencing
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Mutation
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Deafness
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Mutation databases
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Population genetics
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Genomic databases
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Mutational analysis
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