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

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

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...

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Bibliographic Details
Main Authors: Laura Whelan, Adrian Dockery, Niamh Wynne, Julia Zhu, Kirk Stephenson, Giuliana Silvestri, Jacqueline Turner, James J. O’Byrne, Matthew Carrigan, Peter Humphries, David Keegan, Paul F. Kenna, G. Jane Farrar
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:Genes
Subjects:
inherited eye disease
ophthalmic genetics
genomics
next generation sequencing
retinopathy
rare variants
novel variants
Online Access:https://www.mdpi.com/2073-4425/11/1/105

Internet

https://www.mdpi.com/2073-4425/11/1/105

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