| A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV. Bateman J.F., Chiodo A.A., Weng Y.M., Chan D., Haan E.
Hum. Mutat. Suppl. 1:S257-S259(1998) · UniProtKB (1) |
| Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation. Ades L.C., Waltham R.D., Chiodo A.A., Bateman J.F.
Br Heart J 74:112-116(1995) |
| Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. Chiodo A.A., Sillence D.O., Cole W.G., Bateman J.F.
Biochem. J. 311:939-943(1995) · UniProtKB (1) |
| A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. Cole W.G., Chiodo A.A., Lamande S.R., Janeczko R., Ramirez F., Dahl H.-H.M., Chan D., Bateman J.F.
J. Biol. Chem. 265:17070-17077(1990) · UniProtKB (1) |
