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PubMed:10709732 JSONTXT 18 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-119 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?
T1 0-119 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?
TextSentencer_T2 120-292 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis.
T2 120-292 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis.
TextSentencer_T3 293-425 Sentence denotes This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes.
T3 293-425 Sentence denotes This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes.
TextSentencer_T4 426-532 Sentence denotes Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely.
T4 426-532 Sentence denotes Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely.
TextSentencer_T5 533-657 Sentence denotes Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain.
T5 533-657 Sentence denotes Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain.
TextSentencer_T6 658-774 Sentence denotes The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous.
T6 658-774 Sentence denotes The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous.
TextSentencer_T7 775-974 Sentence denotes The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype.
T7 775-974 Sentence denotes The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype.
TextSentencer_T8 975-1127 Sentence denotes The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive.
T8 975-1127 Sentence denotes The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive.