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PubMed:8325895 JSONTXT 28 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-140 Sentence denotes Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
T1 0-140 Sentence denotes Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
TextSentencer_T2 141-312 Sentence denotes A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes the alpha 1 (II) chain of type II collagen.
T2 141-312 Sentence denotes A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes the alpha 1 (II) chain of type II collagen.
TextSentencer_T3 313-430 Sentence denotes The alpha 1 (II) chains extracted from cartilage contained disulfide-bonded dimeric and trimeric alpha 1 (II) chains.
T3 313-430 Sentence denotes The alpha 1 (II) chains extracted from cartilage contained disulfide-bonded dimeric and trimeric alpha 1 (II) chains.
TextSentencer_T4 431-582 Sentence denotes Carboxymethylation confirmed that some of the type II collagen chains contained cysteine residues that are not normally present in alpha 1 (II) chains.
T4 431-582 Sentence denotes Carboxymethylation confirmed that some of the type II collagen chains contained cysteine residues that are not normally present in alpha 1 (II) chains.
TextSentencer_T5 583-705 Sentence denotes Cyanogen bromide peptide mapping showed that the abnormal cysteine residue was located in the alpha 1 (II) CB10.5 peptide.
T5 583-705 Sentence denotes Cyanogen bromide peptide mapping showed that the abnormal cysteine residue was located in the alpha 1 (II) CB10.5 peptide.
TextSentencer_T6 706-935 Sentence denotes Amplification products of the corresponding region of alpha 1 (II) cDNA prepared from cultured dermal fibroblasts were shown by chemical cleavage and single strand conformation polymorphism analyses to contain a sequence anomaly.
T6 706-935 Sentence denotes Amplification products of the corresponding region of alpha 1 (II) cDNA prepared from cultured dermal fibroblasts were shown by chemical cleavage and single strand conformation polymorphism analyses to contain a sequence anomaly.
TextSentencer_T7 936-1109 Sentence denotes DNA sequencing showed a transition of C2913T in exon 41 of one allele of the COL2A1 gene resulting in the substitution of arginine 789 by cysteine in the alpha 1 (II) chain.
T7 936-1109 Sentence denotes DNA sequencing showed a transition of C2913T in exon 41 of one allele of the COL2A1 gene resulting in the substitution of arginine 789 by cysteine in the alpha 1 (II) chain.
TextSentencer_T8 1110-1301 Sentence denotes The mutation resulted in the loss of a MaeII cleavage site that was used to confirm that the proband was heterozygous for the mutation and that neither parent showed evidence of the mutation.
T8 1110-1301 Sentence denotes The mutation resulted in the loss of a MaeII cleavage site that was used to confirm that the proband was heterozygous for the mutation and that neither parent showed evidence of the mutation.
TextSentencer_T9 1302-1428 Sentence denotes The type II collagen extracted from cartilage and from chondrocytes cultured in alginate beads showed similar characteristics.
T9 1302-1428 Sentence denotes The type II collagen extracted from cartilage and from chondrocytes cultured in alginate beads showed similar characteristics.
TextSentencer_T10 1429-1564 Sentence denotes Approximately a third of the type II collagen chains were mutant, and the secretion of molecules containing mutant chains was impaired.
T10 1429-1564 Sentence denotes Approximately a third of the type II collagen chains were mutant, and the secretion of molecules containing mutant chains was impaired.
TextSentencer_T11 1565-1639 Sentence denotes The thermal stability of the collagen extracted from cartilage was normal.
T11 1565-1639 Sentence denotes The thermal stability of the collagen extracted from cartilage was normal.
TextSentencer_T12 1640-1792 Sentence denotes This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.
T12 1640-1792 Sentence denotes This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.