PubMed:6826539
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/6826539","sourcedb":"PubMed","sourceid":"6826539","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/6826539","text":"Structural analysis of a beta-thalassemia gene found in Taiwan.\nThe beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms.","tracks":[{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":63},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":64,"end":180},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":181,"end":251},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":252,"end":343},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":344,"end":496},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":63},"obj":"Sentence"},{"id":"T2","span":{"begin":64,"end":180},"obj":"Sentence"},{"id":"T3","span":{"begin":181,"end":251},"obj":"Sentence"},{"id":"T4","span":{"begin":252,"end":343},"obj":"Sentence"},{"id":"T5","span":{"begin":344,"end":496},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":68,"end":79},"obj":"gene:3043"},{"id":"T1","span":{"begin":105,"end":132},"obj":"disease:C0002875"}],"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/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"6826539-1#4#15#gene3043","span":{"begin":68,"end":79},"obj":"gene3043"},{"id":"6826539-1#41#68#diseaseC0002875","span":{"begin":105,"end":132},"obj":"diseaseC0002875"}],"relations":[{"id":"4#15#gene304341#68#diseaseC0002875","pred":"associated_with","subj":"6826539-1#4#15#gene3043","obj":"6826539-1#41#68#diseaseC0002875"}],"attributes":[{"subj":"6826539-1#4#15#gene3043","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"6826539-1#41#68#diseaseC0002875","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":158,"end":169},"obj":"http://purl.obolibrary.org/obo/UBERON_2000106"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":25,"end":41},"obj":"ORDO:848"},{"id":"AB1","span":{"begin":116,"end":132},"obj":"ORDO:848"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB1","pred":"source","obj":"PubCasesORDO"}]},{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":158,"end":169},"obj":"http://purl.obolibrary.org/obo/UBERON_2000106"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"}]},{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":25,"end":41},"obj":"Disease"},{"id":"T2","span":{"begin":116,"end":132},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"},{"subj":"T1","pred":"source","obj":"mondo_disease"},{"subj":"T2","pred":"source","obj":"mondo_disease"}]},{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":92,"end":99},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"},{"subj":"T1","pred":"source","obj":"NCBITAXON"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sentences","color":"#93acec","default":true},{"id":"DisGeNET","color":"#c6ec93"},{"id":"DisGeNET5_gene_disease","color":"#ec93e0"},{"id":"UBERON-AE","color":"#93ecde"},{"id":"PubCasesORDO","color":"#ecc493"},{"id":"performance-test","color":"#aa93ec"},{"id":"mondo_disease","color":"#95ec93"},{"id":"NCBITAXON","color":"#ec93af"}]}]}}