Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

We used a combined approach of homozygosity mapping and whole exome sequencing (WES) to search for the genetic cause of autosomal recessive retinitis pigmentosa (arRP) in families of Yemenite Jewish origin. Homozygosity mapping of two arRP Yemenite Jewish families revealed a few homozygous regions....

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Detalles Bibliográficos
Autores principales: Khateb, Samer, Zelinger, Lina, Ben-Yosef, Tamar, Merin, Saul, Crystal-Shalit, Ornit, Gross, Menachem, Banin, Eyal, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520954/
https://www.ncbi.nlm.nih.gov/pubmed/23251578
http://dx.doi.org/10.1371/journal.pone.0051566

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