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A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases

PURPOSE: The aim of the study was to elucidate the genetic background of retinitis pigmentosa (RP) in a Faroe Islands population, a genetic isolate in the North Atlantic Ocean. METHODS: Blood samples were collected from subjects diagnosed with RP and their families. DNA from affected individuals und...

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Detalles Bibliográficos
Autores principales: Ostergaard, Elsebet, Duno, Morten, Batbayli, Mustafa, Vilhelmsen, Kaj, Rosenberg, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110495/
https://www.ncbi.nlm.nih.gov/pubmed/21677792