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PubMed:1709636 JSONTXT 39 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-118 Sentence denotes A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
T1 0-118 Sentence denotes A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
TextSentencer_T2 119-246 Sentence denotes Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase (PAH).
T2 119-246 Sentence denotes Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase (PAH).
TextSentencer_T3 247-389 Sentence denotes The absence of PAH activity results in typical PKU while persistence of a residual enzyme activity gives rise to variant forms of the disease.
T3 247-389 Sentence denotes The absence of PAH activity results in typical PKU while persistence of a residual enzyme activity gives rise to variant forms of the disease.
TextSentencer_T4 390-656 Sentence denotes We report here a 3-base pair in-frame deletion of the PAH gene (delta 194) in a mild variant, with markedly reduced affinity of the enzyme for phenylalanine (Km = 160 nM), and we provide functional evidence for responsibility of the deletion in the mutant phenotype.
T4 390-656 Sentence denotes We report here a 3-base pair in-frame deletion of the PAH gene (delta 194) in a mild variant, with markedly reduced affinity of the enzyme for phenylalanine (Km = 160 nM), and we provide functional evidence for responsibility of the deletion in the mutant phenotype.
TextSentencer_T5 657-857 Sentence denotes Since the deletion was located in the third exon of the gene, which presents no homology with other hydroxylases, we suggest that exon 3 is involved in the specificity of the enzyme for phenylalanine.
T5 657-857 Sentence denotes Since the deletion was located in the third exon of the gene, which presents no homology with other hydroxylases, we suggest that exon 3 is involved in the specificity of the enzyme for phenylalanine.
TextSentencer_T6 858-1078 Sentence denotes Finally, since none of the 98 PKU patients tested were found to carry this particular deletion, our study suggests that this molecular event probably occurred recently on the background of a haplotype 2 gene in Portugal.
T6 858-1078 Sentence denotes Finally, since none of the 98 PKU patients tested were found to carry this particular deletion, our study suggests that this molecular event probably occurred recently on the background of a haplotype 2 gene in Portugal.