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PubMed:8104633 JSONTXT 15 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-104 Sentence denotes An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
T1 0-104 Sentence denotes An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
TextSentencer_T2 105-254 Sentence denotes Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA; EC 3.1.6.8).
T2 105-254 Sentence denotes Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA; EC 3.1.6.8).
TextSentencer_T3 255-442 Sentence denotes The 8 ARSA exons and adjacent intron boundaries from a patient with late-infantile metachromatic leukodystrophy were polymerase chain reaction (PCR) amplified in seven discrete reactions.
T3 255-442 Sentence denotes The 8 ARSA exons and adjacent intron boundaries from a patient with late-infantile metachromatic leukodystrophy were polymerase chain reaction (PCR) amplified in seven discrete reactions.
TextSentencer_T4 443-618 Sentence denotes Amplified ARSA exons were analysed for the presence of sequence alterations by single-strand conformation polymorphism analysis, followed by direct sequencing of PCR products.
T4 443-618 Sentence denotes Amplified ARSA exons were analysed for the presence of sequence alterations by single-strand conformation polymorphism analysis, followed by direct sequencing of PCR products.
TextSentencer_T5 619-809 Sentence denotes The patient was found to be homozygous for a C-->T transition in exon IV that results in the substitution of a highly conserved threonine residue at amino acid 274 with a methionine (T274M).
T5 619-809 Sentence denotes The patient was found to be homozygous for a C-->T transition in exon IV that results in the substitution of a highly conserved threonine residue at amino acid 274 with a methionine (T274M).
TextSentencer_T6 810-911 Sentence denotes Analysis of a further 29 MLD patients revealed the presence of five additional homozygotes for T274M.
T6 810-911 Sentence denotes Analysis of a further 29 MLD patients revealed the presence of five additional homozygotes for T274M.
TextSentencer_T7 912-1055 Sentence denotes All 6 T274M homozygotes (representing four families) were of Lebanese descent, and all were known to be the result of consanguineous marriages.
T7 912-1055 Sentence denotes All 6 T274M homozygotes (representing four families) were of Lebanese descent, and all were known to be the result of consanguineous marriages.
TextSentencer_T8 1056-1255 Sentence denotes The altered amino acid is rigidly conserved among 10 sulfatases from Escherichia coli to humans; therefore, it is most likely that the resultant mutant protein will have little or no enzyme activity.
T8 1056-1255 Sentence denotes The altered amino acid is rigidly conserved among 10 sulfatases from Escherichia coli to humans; therefore, it is most likely that the resultant mutant protein will have little or no enzyme activity.
TextSentencer_T9 1256-1383 Sentence denotes This is consistent with the very low ARSA activity measured in these patients and their uniformly severe clinical presentation.
T9 1256-1383 Sentence denotes This is consistent with the very low ARSA activity measured in these patients and their uniformly severe clinical presentation.