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Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes - 16 Jan 2020

Whelan Laura, Dockery Adrian, Wynne Niamh, Zhu Julia, Stephenson Kirk, Silvestri Giuliana, Turner Jacqueline, O'Byrne James J, Carrigan Matthew, Humphries Peter, Keegan David, Kenna Paul F, Farrar G Jane

Abstract excerpt

The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and scientific program to identify individuals in Ireland with inherited retinal disorders and to attempt to ascertain the genetic cause underlying the disease pathology. Potential participants first undergo a clinical assessment, which includes clinical history and analysis with multimodal retinal imaging,...

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Identifiers

PMID: 31963381
DOI: 10.3390/genes11010105
PMCID: PMC7016747

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