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Article

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

The British journal of ophthalmology - 1 Dec 2007

Liskova P, Prescott Q, Bhattacharya S S, Tuft S J

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Identifiers

PMID: 18024822
DOI: 10.1136/bjo.2007.115154
PMCID: PMC2095500

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British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.PMID 18024822Read ↗

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophySemantic proximity Read ↗

Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2.Semantic proximity Read ↗

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Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics—Bowman Club LectureSemantic proximity Read ↗

Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.Semantic proximity Read ↗

Fuchs Endothelial Cornea Dystrophy: A Review of the Genetics Behind Disease DevelopmentSemantic proximity Read ↗

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A Family of Fuchs Endothelial Corneal Dystrophy and Anterior Polar Cataract with An Analysis of Whole Exome SequencingSemantic proximity Read ↗

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.Semantic proximity Read ↗

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