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Patients with Ehlers-Danlos Syndrome Type IV Lack Type III Collagen

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source: Proceedings of the National Academy of Sciences of the United States of America

year: 1975

authors: Pope FM, Martin GR, Lichtenstein JR, Penttinen R, Gerson B, Rowe DW, McKusick VA


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.

organization: National Institute of Dental Research Bethesda; Johns Hopkins Hospital; Armed Forces Institute of Pathology

DOI: 10.1073/pnas.72.4.1314

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