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PubMed:7076659 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-34 Sentence denotes beta-Thalassemia in a Kurdish Jew.
TextSentencer_T2 35-74 Sentence denotes Single base changes in the T-A-T-A box.
TextSentencer_T3 75-319 Sentence denotes We recently described a "non-random" sequencing procedure for DNA inserts in bacteriophage M13 using Bal 3 nuclease and the dideoxy chain termination method (Poncz, M., Solowiejczyk, D., Ballantine, M., Schwartz, E., and Surrey, S. (1982) Proc.
TextSentencer_T4 320-325 Sentence denotes Natl.
TextSentencer_T5 326-331 Sentence denotes Acad.
TextSentencer_T6 332-336 Sentence denotes Sci.
TextSentencer_T7 337-339 Sentence denotes U.
TextSentencer_T8 340-342 Sentence denotes S.
TextSentencer_T9 343-357 Sentence denotes A., in press).
TextSentencer_T10 358-507 Sentence denotes Using this procedure, we have determined the nucleotide sequence of a cloned human beta-globin gene from a Kurdish Jew with beta +-thalassemia major.
TextSentencer_T11 508-625 Sentence denotes Comparison with the previously reported human beta-globin gene sequences (1-3) reveals a change in the "T-A-T-A" box.
TextSentencer_T12 626-786 Sentence denotes This region 5' to the capping site was previously demonstrated to be critical for the proper transcription in vitro of several different eukaryotic genes (4-7).
TextSentencer_T13 787-917 Sentence denotes This is the first report of a T-A-T-A box modification found in association with a spontaneously occurring human genetic disorder.
TextSentencer_T14 918-1061 Sentence denotes In addition to this mutation, other base changes, an insertion, and a deletion in the cloned gene were found in the 5' and 3' flanking regions.
T1 0-34 Sentence denotes beta-Thalassemia in a Kurdish Jew.
T2 35-74 Sentence denotes Single base changes in the T-A-T-A box.
T3 75-319 Sentence denotes We recently described a "non-random" sequencing procedure for DNA inserts in bacteriophage M13 using Bal 3 nuclease and the dideoxy chain termination method (Poncz, M., Solowiejczyk, D., Ballantine, M., Schwartz, E., and Surrey, S. (1982) Proc.
T4 320-325 Sentence denotes Natl.
T5 326-331 Sentence denotes Acad.
T6 332-336 Sentence denotes Sci.
T7 337-339 Sentence denotes U.
T8 340-342 Sentence denotes S.
T9 343-357 Sentence denotes A., in press).
T10 358-507 Sentence denotes Using this procedure, we have determined the nucleotide sequence of a cloned human beta-globin gene from a Kurdish Jew with beta +-thalassemia major.
T11 508-625 Sentence denotes Comparison with the previously reported human beta-globin gene sequences (1-3) reveals a change in the "T-A-T-A" box.
T12 626-786 Sentence denotes This region 5' to the capping site was previously demonstrated to be critical for the proper transcription in vitro of several different eukaryotic genes (4-7).
T13 787-917 Sentence denotes This is the first report of a T-A-T-A box modification found in association with a spontaneously occurring human genetic disorder.
T14 918-1061 Sentence denotes In addition to this mutation, other base changes, an insertion, and a deletion in the cloned gene were found in the 5' and 3' flanking regions.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 441-452 gene:3043 denotes beta-globin
T1 489-506 disease:C0002875 denotes thalassemia major
R1 T0 T1 associated_with beta-globin,thalassemia major

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
7076659-2#83#94#gene3043 441-452 gene3043 denotes beta-globin
7076659-2#124#148#diseaseC0002875 482-506 diseaseC0002875 denotes beta +-thalassemia major
83#94#gene3043124#148#diseaseC0002875 7076659-2#83#94#gene3043 7076659-2#124#148#diseaseC0002875 associated_with beta-globin,beta +-thalassemia major

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-16 ORDO:848 denotes beta-Thalassemia
AB1 648-655 ORDO:464343 denotes capping

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-16 Disease denotes beta-Thalassemia http://purl.obolibrary.org/obo/MONDO_0013517
T2 482-506 Disease denotes beta +-thalassemia major http://purl.obolibrary.org/obo/MONDO_0016486
T3 900-916 Disease denotes genetic disorder http://purl.obolibrary.org/obo/MONDO_0003847

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 435-440 OrganismTaxon denotes human 9606
T2 548-553 OrganismTaxon denotes human 9606
T3 894-899 OrganismTaxon denotes human 9606