@article {Nuytinck375, author = {L Nuytinck and P Narcisi and A Nicholls and J P Renard and F M Pope and A De Paepe}, title = {Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.}, volume = {29}, number = {6}, pages = {375--380}, year = {1992}, doi = {10.1136/jmg.29.6.375}, publisher = {BMJ Publishing Group Ltd}, abstract = {The clinical and biochemical observations in a patient with a mild form of Ehlers-Danlos syndrome (EDS) type IV are described. The patient{\textquoteright}s skin fibroblasts produced markedly diminished amounts of type III collagen. SDS-polyacrylamide gel electrophoresis of collagens produced by cells obtained from other, non-cutaneous tissues showed two forms of collagen alpha 1(III) chains, a normal and a slow migrating, mutant form. Further analysis confirmed that the type III collagen molecules containing mutant alpha chains which were overmodified had a lower thermal stability and were poorly secreted into the extracellular medium. The protein defect was mapped by in situ cyanogen bromide digestion and was located in alpha 1(III) CB9, the C-terminal peptide of the collagen triple helix. This study shows that non-cutaneous connective tissues can be a useful source for the study of type III collagen defects in patients with EDS type IV.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/29/6/375}, eprint = {https://jmg.bmj.com/content/29/6/375.full.pdf}, journal = {Journal of Medical Genetics} }