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. 1975 Apr;72(4):1314-6.
doi: 10.1073/pnas.72.4.1314.

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

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

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

F M Pope et al. Proc Natl Acad Sci U S A. 1975 Apr.

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.

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References

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