A Novel Mutation ofCOL2A1Resulting in Dominantly Inherited Rhegmatogenous Retinal Detachment

1 February 2005

journal article
Published by Association for Research in Vision and Ophthalmology (ARVO) in Investigative Opthalmology & Visual Science

Vol. 46 (2) , 663-668
https://doi.org/10.1167/iovs.04-1017

Abstract

Purpose. To determine the molecular defect in a family with autosomal dominant rhegmatogenous retinal detachment (DRRD), and to investigate missplicing as a possible phenotypic modifier of mutations in COL2A1.

Keywords

NOVEL MUTATION
COL2A1
MISSPLICING
DEFECT
DRRD
DOMINANTLY
INHERITED
AUTOSOMAL
MUTATIONS

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