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Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

Year: 1975

Type: article

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.

Source: Proceedings of the National Academy of Sciences

DOI: 10.1073/pnas.72.4.1314

Authors: F M Pope, G R Martin, J R Lichtenstein, R Penttinen, B Gerson, D W Rowe, V A McKusick

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2160256489

FWCI: 9.448

Cites: 14

Cited by: 425

Related to: 10