Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas, S; Munier, F L; Yardley, J; Hart-Holden, N; Perveen, R; Cousin, P; Sutphin, J E; Noble, B; Batterbury, M; Kielty, C; Hackett, A; Bonshek, R; Ridgway, A; McLeod, D; Sheffield, V C; Stone, E M; Schorderet, D F; Black, G C

Biswas, S; Munier, F L; Yardley, J; Hart-Holden, N; Perveen, R; Cousin, P; Sutphin, J E; Noble, B; Batterbury, M; Kielty, C; Hackett, A; Bonshek, R; Ridgway, A; McLeod, D; Sheffield, V C; Stone, E M; Schorderet, D F; Black, G C.

Affiliation

Biswas S; Academic Department of Ophthalmology, Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK.

Hum Mol Genet ; 10(21): 2415-23, 2001 Oct 01.

Article in En | MEDLINE | ID: mdl-11689488

Subject(s)

Collagen Type VIII/genetics; Corneal Dystrophies, Hereditary/genetics; Endothelium, Corneal/pathology; Fuchs' Endothelial Dystrophy/genetics; Amino Acid Sequence; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 1/genetics; Corneal Dystrophies, Hereditary/pathology; DNA/chemistry; DNA/genetics; Endothelium, Corneal/ultrastructure; Family Health; Female; Fuchs' Endothelial Dystrophy/pathology; Genes/genetics; Haplotypes; Humans; Male; Microsatellite Repeats; Microscopy, Electron; Molecular Sequence Data; Mutation, Missense; Pedigree; Sequence Analysis, DNA

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Collection: 01-internacional Database: MEDLINE Main subject: Endothelium, Corneal / Fuchs' Endothelial Dystrophy / Corneal Dystrophies, Hereditary / Collagen Type VIII Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2001 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom

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