> top > projects > sentences > docs > PubMed:7857677 > annotations
sentences Home  

PubMed:7857677 JSONTXT 15 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-162 Sentence denotes Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?
T1 0-162 Sentence denotes Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?
TextSentencer_T2 163-269 Sentence denotes Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase (EC 3.1.2.45, gene symbol GBA).
T2 163-269 Sentence denotes Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase (EC 3.1.2.45, gene symbol GBA).
TextSentencer_T3 270-523 Sentence denotes In type I GD, the CNS is not involved (nonneuronopathic), whereas in type II GD (acute neuronopathic) CNS involvement is early and rapidly progressive, while in type III GD (subacute neuronopathic) CNS involvement occurs later and is slowly progressive.
T3 270-523 Sentence denotes In type I GD, the CNS is not involved (nonneuronopathic), whereas in type II GD (acute neuronopathic) CNS involvement is early and rapidly progressive, while in type III GD (subacute neuronopathic) CNS involvement occurs later and is slowly progressive.
TextSentencer_T4 524-583 Sentence denotes The T6433C (L444P) substitution is prevalent in type GD II.
T4 524-583 Sentence denotes The T6433C (L444P) substitution is prevalent in type GD II.
TextSentencer_T5 584-817 Sentence denotes It may occur alone as a single base-pair mutation but often is found as part of a complex allele containing additional GBA nucleotide substitutions, G6468C (A456P) and G6482C (V460V), without (recNciI) or with (recTL) G5957C (D409H).
T5 584-817 Sentence denotes It may occur alone as a single base-pair mutation but often is found as part of a complex allele containing additional GBA nucleotide substitutions, G6468C (A456P) and G6482C (V460V), without (recNciI) or with (recTL) G5957C (D409H).
TextSentencer_T6 818-983 Sentence denotes This complex allele is presumed to have formed by recombination (crossover, fusion) of the structural gene with the pseudogene, which contains the mutated sequences.
T6 818-983 Sentence denotes This complex allele is presumed to have formed by recombination (crossover, fusion) of the structural gene with the pseudogene, which contains the mutated sequences.
TextSentencer_T7 984-1062 Sentence denotes Two complex alleles have never been demonstrated to coexist in any individual.
T7 984-1062 Sentence denotes Two complex alleles have never been demonstrated to coexist in any individual.
TextSentencer_T8 1063-1161 Sentence denotes We devised a selective PCR method for the specific amplification of the normal and/or fusion gene.
T8 1063-1161 Sentence denotes We devised a selective PCR method for the specific amplification of the normal and/or fusion gene.
TextSentencer_T9 1162-1304 Sentence denotes Using this procedure we demonstrated the fusion gene in homozygous form for the first time, in a Macedonian/Ashkenazi Jewish GD type II fetus.
T9 1162-1304 Sentence denotes Using this procedure we demonstrated the fusion gene in homozygous form for the first time, in a Macedonian/Ashkenazi Jewish GD type II fetus.
TextSentencer_T10 1305-1353 Sentence denotes Both parents were carriers of the recombination.
T10 1305-1353 Sentence denotes Both parents were carriers of the recombination.
TextSentencer_T11 1354-1401 Sentence denotes This was confirmed by direct sequence analysis.
T11 1354-1401 Sentence denotes This was confirmed by direct sequence analysis.
TextSentencer_T12 1402-1500 Sentence denotes A previous conceptus in this family was stillborn at 36 weeks, with features of severe type II GD.
T12 1402-1500 Sentence denotes A previous conceptus in this family was stillborn at 36 weeks, with features of severe type II GD.
TextSentencer_T13 1501-1819 Sentence denotes Neonates showing a severe clinical phenotype, analogous to the early neonatal lethal disease occurring in mice homozygous for a null allele produced by targeted disruption of GBA, have been described elsewhere, but the specific mutations in these cases have not yet been characterized.(ABSTRACT TRUNCATED AT 250 WORDS)
T13 1501-1819 Sentence denotes Neonates showing a severe clinical phenotype, analogous to the early neonatal lethal disease occurring in mice homozygous for a null allele produced by targeted disruption of GBA, have been described elsewhere, but the specific mutations in these cases have not yet been characterized.(ABSTRACT TRUNCATED AT 250 WORDS)