> top > projects > sentences > docs > PubMed:1684088 > annotations
sentences Home  

PubMed:1684088 JSONTXT 17 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-98 Sentence denotes Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
T1 0-98 Sentence denotes Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
TextSentencer_T2 99-274 Sentence denotes Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors.
T2 99-274 Sentence denotes Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors.
TextSentencer_T3 275-419 Sentence denotes Clones hybridizing with cDNA for human ARSA were selected, examined for appropriate size inserts, and used to prepare single-stranded phage DNA.
T3 275-419 Sentence denotes Clones hybridizing with cDNA for human ARSA were selected, examined for appropriate size inserts, and used to prepare single-stranded phage DNA.
TextSentencer_T4 420-535 Sentence denotes Examination of the entire coding and most of the intronic sequence revealed two putative disease-related mutations.
T4 420-535 Sentence denotes Examination of the entire coding and most of the intronic sequence revealed two putative disease-related mutations.
TextSentencer_T5 536-622 Sentence denotes One, a point mutation in exon 3, resulted in the substitution of isoleucine by serine.
T5 536-622 Sentence denotes One, a point mutation in exon 3, resulted in the substitution of isoleucine by serine.
TextSentencer_T6 623-804 Sentence denotes Introduction of this alteration into the normal ARSA cDNA sequence resulted in a substantial decrease in ARSA activity on transient expression in cultured baby hamster kidney cells.
T6 623-804 Sentence denotes Introduction of this alteration into the normal ARSA cDNA sequence resulted in a substantial decrease in ARSA activity on transient expression in cultured baby hamster kidney cells.
TextSentencer_T7 805-911 Sentence denotes About 5% of the control expression was observed, suggesting a small residual activity in the mutated ARSA.
T7 805-911 Sentence denotes About 5% of the control expression was observed, suggesting a small residual activity in the mutated ARSA.
TextSentencer_T8 912-1078 Sentence denotes The second mutation, a G-to-A transition, occurred in the other allele and resulted in an altered splice-recognition sequence between exon 7 and the following intron.
T8 912-1078 Sentence denotes The second mutation, a G-to-A transition, occurred in the other allele and resulted in an altered splice-recognition sequence between exon 7 and the following intron.
TextSentencer_T9 1079-1140 Sentence denotes The mutation also resulted in the loss of a restriction site.
T9 1079-1140 Sentence denotes The mutation also resulted in the loss of a restriction site.
TextSentencer_T10 1141-1280 Sentence denotes Apparently normal levels of mRNA were generated from this allele, but no ARSA activity or immuno-cross-reactive material could be detected.
T10 1141-1280 Sentence denotes Apparently normal levels of mRNA were generated from this allele, but no ARSA activity or immuno-cross-reactive material could be detected.
TextSentencer_T11 1281-1427 Sentence denotes A collection of DNA samples from known or suspected MLD patients, members of their families, and normal controls was screened for these mutations.
T11 1281-1427 Sentence denotes A collection of DNA samples from known or suspected MLD patients, members of their families, and normal controls was screened for these mutations.
TextSentencer_T12 1428-1546 Sentence denotes Four additional individuals carrying each of the mutations were found among the nearly 100 MLD patients in the sample.
T12 1428-1546 Sentence denotes Four additional individuals carrying each of the mutations were found among the nearly 100 MLD patients in the sample.
TextSentencer_T13 1547-1657 Sentence denotes Gene segregation in the original patient's family was consistent with available clinical and biochemical data.
T13 1547-1657 Sentence denotes Gene segregation in the original patient's family was consistent with available clinical and biochemical data.
TextSentencer_T14 1658-1734 Sentence denotes No individuals homozygous for either of these two mutations were identified.
T14 1658-1734 Sentence denotes No individuals homozygous for either of these two mutations were identified.
TextSentencer_T15 1735-1924 Sentence denotes However, combinations with other MLD mutations suggest that the point mutation in exon 3 does result in some residual enzyme activity and is associated with late-onset forms of the disease.
T15 1735-1924 Sentence denotes However, combinations with other MLD mutations suggest that the point mutation in exon 3 does result in some residual enzyme activity and is associated with late-onset forms of the disease.
TextSentencer_T16 1925-2095 Sentence denotes The splice-site mutation following exon 7 produces late-infantile MLD when combined with other enzyme-null mutations, implying that it is completely silent enzymatically.
T16 1925-2095 Sentence denotes The splice-site mutation following exon 7 produces late-infantile MLD when combined with other enzyme-null mutations, implying that it is completely silent enzymatically.