Article
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
Journal of molecular medicine (Berlin, Germany) - 1 Jul 2006
Seidler Daniela G, Faiyaz-Ul-Haque Muhammad, Hansen Uwe, Yip George W, Zaidi Syed H E, Teebi Ahmad S, Kiesel Ludwig, Götte Martin
Abstract excerpt
The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders affecting skin and joint function. Molecular defects in extracellular matrix proteins, including collagen (type I, III, and V) and tenascin X are associated with different forms of EDS. Compound heterozygous...
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