Article

EYS Mutations and Implementation of Minigene Assay for Variant Classification in EYS-Associated Retinitis Pigmentosa in Northern Sweden

2020-11-30

Abstract excerpt

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of recessive RP worldwide, with prevalence of 5 to 30%. In this study, by using targeted NGS, MLPA and Sanger sequencing we uncovered the EYS gene as the second most common genetic cause of RP in northern S...

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Literature Corpus work: 342a6771-bdba-5fec-981f-0765e2eb851f
DOI: 10.21203/rs.3.rs-109519/v1

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