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Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):939-43. doi: 10.1042/bj3110939.
Biochem J. 1995.
PMID: 7487954
Free PMC article.
Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.
Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M.
Zoppi N, et al.
J Biol Chem. 2004 Apr 30;279(18):18157-68. doi: 10.1074/jbc.M312609200. Epub 2004 Feb 17.
J Biol Chem. 2004.
PMID: 14970208
Free article.
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