1. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-au (V) chains results in the gravis form of Ehlers-Danlos syndrome (type I);Wenstrup, R.J.; Langland, G.T.; Willing, M.C.; Dsouza, V.N.; Cole, W.G.;Hum Mol Genet,1996
2. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome;Nicholls, A.C.; Oliver, J.E.; McCarron, S.; Harrison, J.B.; Greenspan, D.S.; Pope, F.M.;iMed Genet,1996
3. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I;A, De Paepe; L, Nuytink; I, Hausser; I, Anton-Lamprecht; JM, Naeyaert;and II. Am J Hum Genet,1997
4. Mutations of the a2(V) chain of type V collagen impair matrix assembly and produces Ehlers-Danlos syndrome type;Michalickova, K.; Susic, M.; Willing, M.C.; Wenstrup, R.J.; Cole, W.G.;I. Hum Mol Genet,1998
5. Cartilage contains mixed fibrils of collagen types II, IX and;Mendler, M.; Eich-Bender, S.G.; Vaughan, L.; Winterhalter, K.H.; Bruckner, P.;XI._J Cell Biol,1989