PubMed:1556139 / 0-272 JSONTXT

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{"project":"CL-cell","denotations":[{"id":"T1","span":{"begin":148,"end":154},"obj":"Cell"},{"id":"T3","span":{"begin":229,"end":235},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0004120"},{"id":"A2","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0004138"},{"id":"A3","pred":"cl_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/CL:0004120"},{"id":"A4","pred":"cl_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/CL:0004138"}],"text":"A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.\nThe dermal type I collagen of a patient with Ehlers-Da"}