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PubMed:10790204 JSONTXT 18 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-229 Sentence denotes Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
T1 0-229 Sentence denotes Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
TextSentencer_T2 230-362 Sentence denotes Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation.
T2 230-362 Sentence denotes Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation.
TextSentencer_T3 363-426 Sentence denotes We identified four novel mutations in three unrelated patients.
T3 363-426 Sentence denotes We identified four novel mutations in three unrelated patients.
TextSentencer_T4 427-526 Sentence denotes All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality.
T4 427-526 Sentence denotes All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality.
TextSentencer_T5 527-719 Sentence denotes Immunoblot analysis revealed that VLCAD protein was undetectable in patients 2 and 3, whereas normal-size VLCAD protein and an aberrant form of VLCAD (4kDa smaller) were detected in patient 1.
T5 527-719 Sentence denotes Immunoblot analysis revealed that VLCAD protein was undetectable in patients 2 and 3, whereas normal-size VLCAD protein and an aberrant form of VLCAD (4kDa smaller) were detected in patient 1.
TextSentencer_T6 720-916 Sentence denotes As expected, null mutations were found in patients 2 and 3: patient 2 is homozygous for a frameshift mutation, del 4 bp at 798-801, and patient 3 is homozygous for a nonsense mutation 65C>A(S22X).
T6 720-916 Sentence denotes As expected, null mutations were found in patients 2 and 3: patient 2 is homozygous for a frameshift mutation, del 4 bp at 798-801, and patient 3 is homozygous for a nonsense mutation 65C>A(S22X).
TextSentencer_T7 917-1143 Sentence denotes Patient 1 was homozygous for a complex mutant allele containing two alterations, including a 194C>T transition (P65L) and 739A>C transversion (K247Q); in the case of P65L, the amino acid change does not reduce enzyme activity.
T7 917-1143 Sentence denotes Patient 1 was homozygous for a complex mutant allele containing two alterations, including a 194C>T transition (P65L) and 739A>C transversion (K247Q); in the case of P65L, the amino acid change does not reduce enzyme activity.
TextSentencer_T8 1144-1278 Sentence denotes However, the nucleotide change resulted in exon 3 skipping, whereas the latter K247Q mutation had a drastic effect on enzyme activity.
T8 1144-1278 Sentence denotes However, the nucleotide change resulted in exon 3 skipping, whereas the latter K247Q mutation had a drastic effect on enzyme activity.
TextSentencer_T9 1279-1386 Sentence denotes We verified these events by in vivo splicing experiments and transient expression analysis of mutant cDNAs.
T9 1279-1386 Sentence denotes We verified these events by in vivo splicing experiments and transient expression analysis of mutant cDNAs.
TextSentencer_T10 1387-1466 Sentence denotes The P65L mutation locates 11 bases upstream of a splice donor site of intron 3.
T10 1387-1466 Sentence denotes The P65L mutation locates 11 bases upstream of a splice donor site of intron 3.
TextSentencer_T11 1467-1536 Sentence denotes This is an example of an exonic mutation which affects exon-splicing.
T11 1467-1536 Sentence denotes This is an example of an exonic mutation which affects exon-splicing.