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. et al., 2001/10. Human Molecular Genetics, 10 (21) pp. 2415-23.
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