A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.
Martin
M
Snead
Allan
A
Richards
D017398:Alternative Splicing / Q000235:genetics*; D024043:Collagen Type II / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D012162:Retinal Degeneration / Q000235:genetics*; D014822:Vitreous Body / Q000473:pathology*
C499177:COL2A1 protein, human; D024043:Collagen Type II