Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228747.RAvPa-bOwzNaeP_TJFHM_5n8uMD6V_RifTgV485NudWOc#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 14970208 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Dermal fibroblasts derived from types I and IV Ehlers-Danlos syndrome (EDS) patients, carrying mutations in COL5A1 and COL3A1 genes, respectively, synthesize aberrant types V and III collagen (COLL) and show defective organization of these proteins into the extracellular matrix (ECM) and high reduction of their functional receptor, the alpha(2)beta(1) integrin, compared with control fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.