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Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Among authors: schorderet df. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488
285 results