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Article

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

Molecular vision - 1 Jan 2011

Ostergaard Elsebet, Duno Morten, Batbayli Mustafa, Vilhelmsen Kaj, Rosenberg Thomas

Abstract excerpt

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 underwent single nucleotide polymorphism microarray analysis and homozygosity mapping followed by sequence analysis of...

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Identifiers

PMID: 21677792
PMCID: PMC3110495

Genes

MERTK

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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.PMID 21677792Read ↗

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EYS Mutations and Implementation of Minigene Assay for Variant Classification in EYS-Associated Retinitis Pigmentosa in Northern SwedenSemantic proximity Read ↗

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