Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

doi:10.1002/humu.22764

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Article

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

Human mutation - 1 Apr 2015

Jonsson Frida, Byström Berit, Davidson Alice E, Backman Ludvig J, Kellgren Therese G, Tuft Stephen J, Koskela Timo, Rydén Patrik, Sandgren Ola, Danielson Patrik, Hardcastle Alison J, Golovleva Irina

Abstract excerpt

Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause. In this study, we identified a dominantly inherited epithelial recurrent erosion dystrophy (ERED)-like disease that is common in northern Sweden. Whole-exome sequencing resulted in the...

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PMID: 25676728
DOI: 10.1002/humu.22764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.