PubMed:10419498 / 477-689 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T3","span":{"begin":36,"end":44},"obj":"HP_0003198"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10419498-3#82#88#gene1291","span":{"begin":82,"end":88},"obj":"gene1291"},{"id":"10419498-3#28#44#diseaseC1834674","span":{"begin":28,"end":44},"obj":"diseaseC1834674"}],"relations":[{"id":"82#88#gene129128#44#diseaseC1834674","pred":"associated_with","subj":"10419498-3#82#88#gene1291","obj":"10419498-3#28#44#diseaseC1834674"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}

{"project":"PubCasesHPO","denotations":[{"id":"AB2","span":{"begin":36,"end":44},"obj":"HP:0003198"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}

{"project":"PubCasesORDO","denotations":[{"id":"AB2","span":{"begin":28,"end":44},"obj":"ORDO:610"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":212},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":212},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":82,"end":88},"obj":"gene:1291"},{"id":"T1","span":{"begin":28,"end":44},"obj":"disease:C1834674"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}

{"project":"HP-phenotype","denotations":[{"id":"T3","span":{"begin":36,"end":44},"obj":"Phenotype"}],"attributes":[{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0003198"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}

{"project":"mondo_disease","denotations":[{"id":"T5","span":{"begin":28,"end":44},"obj":"Disease"}],"attributes":[{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0008029"},{"id":"A6","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0024530"}],"text":"We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain."}