PubMed:7586656 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/7586656","sourcedb":"PubMed","sourceid":"7586656","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/7586656","text":"Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.\nWhole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":113,"end":133},"obj":"SpecificDisease:D007926"},{"id":"T2","span":{"begin":274,"end":296},"obj":"SpecificDisease:D007926"},{"id":"T3","span":{"begin":307,"end":327},"obj":"SpecificDisease:D007926"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T2","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T3","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":223,"end":227},"obj":"gene:3251"},{"id":"T1","span":{"begin":307,"end":327},"obj":"disease:C0023374"},{"id":"T2","span":{"begin":274,"end":278},"obj":"gene:3251"},{"id":"T3","span":{"begin":279,"end":296},"obj":"disease:C0149676"},{"id":"T4","span":{"begin":274,"end":278},"obj":"gene:3251"},{"id":"T5","span":{"begin":307,"end":327},"obj":"disease:C0023374"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"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"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":134},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":135,"end":328},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":329,"end":421},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":422,"end":550},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":134},"obj":"Sentence"},{"id":"T2","span":{"begin":135,"end":328},"obj":"Sentence"},{"id":"T3","span":{"begin":329,"end":421},"obj":"Sentence"},{"id":"T4","span":{"begin":422,"end":550},"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":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":113,"end":133},"obj":"ORDO:510"},{"id":"AB1","span":{"begin":307,"end":327},"obj":"ORDO:510"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB1","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"7586656-1#88#92#gene3251","span":{"begin":223,"end":227},"obj":"gene3251"},{"id":"7586656-1#139#143#gene3251","span":{"begin":274,"end":278},"obj":"gene3251"},{"id":"7586656-1#172#192#diseaseC0023374","span":{"begin":307,"end":327},"obj":"diseaseC0023374"}],"relations":[{"id":"88#92#gene3251172#192#diseaseC0023374","pred":"associated_with","subj":"7586656-1#88#92#gene3251","obj":"7586656-1#172#192#diseaseC0023374"},{"id":"139#143#gene3251172#192#diseaseC0023374","pred":"associated_with","subj":"7586656-1#139#143#gene3251","obj":"7586656-1#172#192#diseaseC0023374"}],"attributes":[{"subj":"7586656-1#88#92#gene3251","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"7586656-1#139#143#gene3251","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"7586656-1#172#192#diseaseC0023374","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"NCBI-Disease-Train","denotations":[{"id":"T603","span":{"begin":113,"end":133},"obj":"SpecificDisease"},{"id":"T604","span":{"begin":274,"end":296},"obj":"SpecificDisease"},{"id":"T605","span":{"begin":307,"end":327},"obj":"SpecificDisease"}],"attributes":[{"id":"A603","pred":"database_id","subj":"T603","obj":"D007926"},{"id":"A604","pred":"database_id","subj":"T604","obj":"D007926"},{"id":"A605","pred":"database_id","subj":"T605","obj":"D007926"},{"subj":"T603","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T604","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T605","pred":"source","obj":"NCBI-Disease-Train"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T603","span":{"begin":113,"end":133},"obj":"SpecificDisease"},{"id":"T604","span":{"begin":274,"end":296},"obj":"SpecificDisease"},{"id":"T605","span":{"begin":307,"end":327},"obj":"SpecificDisease"}],"attributes":[{"id":"A603","pred":"database_id","subj":"T603","obj":"D007926"},{"id":"A604","pred":"database_id","subj":"T604","obj":"D007926"},{"id":"A605","pred":"database_id","subj":"T605","obj":"D007926"},{"subj":"T603","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T604","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T605","pred":"source","obj":"NCBI-Disease-Corpus-All"}]},{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":113,"end":133},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":274,"end":296},"obj":"Modifier"},{"id":"T3","span":{"begin":307,"end":327},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"}]},{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":113,"end":133},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":274,"end":296},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":307,"end":327},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"}]},{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":113,"end":133},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":274,"end":296},"obj":"Modifier"},{"id":"T3","span":{"begin":307,"end":327},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"}]},{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":113,"end":133},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":274,"end":327},"obj":"CompositeMention"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NCBIDiseaseCorpus","color":"#93c5ec","default":true},{"id":"DisGeNET","color":"#dfec93"},{"id":"sentences","color":"#de93ec"},{"id":"PubCasesORDO","color":"#93ecc4"},{"id":"DisGeNET5_gene_disease","color":"#ecaa93"},{"id":"NCBI-Disease-Train","color":"#9395ec"},{"id":"NCBI-Disease-Corpus-All","color":"#afec93"},{"id":"NCBI-Disease-Corpus-2stage-All","color":"#ec93c9"},{"id":"NCBI-Disease-Corpus-rezarta-All","color":"#93e3ec"},{"id":"NCBI-Disease-Corpus-4oGuideline-All","color":"#ecdb93"},{"id":"NCBI-Disease-Corpus-Simple-All","color":"#c193ec"}]}]}}