Associated Papers
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA et al.
Acta Ophthalmologica, 2024
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).
Jonsson F et al.
Human Mutation, 2015
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