title: Patients with Ehlers-Danlos syndrome type IV lack type III collagen.
abstract: One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers-Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen. Ehlers-Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers-Danlos syndrome IV patients result from an absence of type III collagen.
mesh_terms: D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D001011:Aorta / Q000032:analysis; D001842:Bone and Bones / Q000032:analysis; D002478:Cells, Cultured; D002848:Chromatography, DEAE-Cellulose; D003094:Collagen / Q000032:analysis / Q000096:biosynthesis*; D003488:Cyanogen Bromide; D004535:Ehlers-Danlos Syndrome / Q000378:metabolism*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005347:Fibroblasts / Q000032:analysis / Q000378:metabolism; D006801:Humans; D007422:Intestines / Q000032:analysis; D008297:Male; D010446:Peptide Fragments / Q000032:analysis; D012867:Skin / Q000032:analysis; D013710:Tendons / Q000032:analysis
chemical_list: D000596:Amino Acids; D010446:Peptide Fragments; D003094:Collagen; D003488:Cyanogen Bromide