1. The Ehlers-Danlos syndrome;Beighton, P.,1970
2. Patients with Ehlers-Danlos syndrome type IV lack;Pope, F.M.; Martin, G.R.; Lichtenstein, JR,1975
3. A single base mutation that substitutes serine for glycine 790 of the al(III) chain of type III collagen exposes an arginine and causes Ehlers-Danlos syndrome type IV;Tromp, G.; Kuivaniemi, H.; Shikata, H.; Prockop, D.J.;Jf Biol Chem,1989
4. Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome;Tromp, G.; Kuivaniemi, H.; Stolle, C.; Pope, F.M.; Prockop, D.J.;IV. J7 Biol Chem,1989
5. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation;Richards, A.J.; Ward, P.N.; Narcisi, P.; Nicholls, A.C.; Lloyd, J.C.; Pope, F.M.;Hum Genet,1992