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PubMed:8101038 JSONTXT 16 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-108 Sentence denotes High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
T1 0-108 Sentence denotes High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
TextSentencer_T2 109-262 Sentence denotes We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%.
T2 109-262 Sentence denotes We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%.
TextSentencer_T3 263-375 Sentence denotes Fibroblasts of the patient show significant sulfatide degradation activity exceeding that of adult MLD patients.
T3 263-375 Sentence denotes Fibroblasts of the patient show significant sulfatide degradation activity exceeding that of adult MLD patients.
TextSentencer_T4 376-679 Sentence denotes Analysis of the ARSA gene in this patient revealed heterozygosity for two new mutant alleles: in one allele, deletion of C 447 in exon 2 leads to a frameshift and to a premature stop codon at amino acid position 105; in the second allele, a G-->A transition in exon 5 causes a Gly309-->Ser substitution.
T4 376-679 Sentence denotes Analysis of the ARSA gene in this patient revealed heterozygosity for two new mutant alleles: in one allele, deletion of C 447 in exon 2 leads to a frameshift and to a premature stop codon at amino acid position 105; in the second allele, a G-->A transition in exon 5 causes a Gly309-->Ser substitution.
TextSentencer_T5 680-813 Sentence denotes Transient expression of the mutant Ser309-ARSA resulted in only 13% enzyme activity of that observed in cells expressing normal ARSA.
T5 680-813 Sentence denotes Transient expression of the mutant Ser309-ARSA resulted in only 13% enzyme activity of that observed in cells expressing normal ARSA.
TextSentencer_T6 814-885 Sentence denotes The mutant ARSA is correctly targeted to the lysosomes but is unstable.
T6 814-885 Sentence denotes The mutant ARSA is correctly targeted to the lysosomes but is unstable.
TextSentencer_T7 886-1045 Sentence denotes These findings are in contrast to previous results showing that the late-infantile type of MLD is always associated with the complete absence of ARSA activity.
T7 886-1045 Sentence denotes These findings are in contrast to previous results showing that the late-infantile type of MLD is always associated with the complete absence of ARSA activity.
TextSentencer_T8 1046-1226 Sentence denotes The expression of the mutant ARSA protein may be influenced by particular features of oligodendrocytes, such that the level of mutant enzyme is lower in these cells than in others.
T8 1046-1226 Sentence denotes The expression of the mutant ARSA protein may be influenced by particular features of oligodendrocytes, such that the level of mutant enzyme is lower in these cells than in others.