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PubMed:7693712 JSONTXT 29 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain.
T1 0-112 Sentence denotes Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain.
TextSentencer_T2 113-172 Sentence denotes A regional model relating mutation location with phenotype.
T2 113-172 Sentence denotes A regional model relating mutation location with phenotype.
TextSentencer_T3 173-395 Sentence denotes The relationship between the clinical severity of osteogenesis imperfecta (OI) and the location and type of amino acid substitution in type I collagen is not identical for mutations in the alpha 1(I) and alpha 2(I) chains.
T3 173-395 Sentence denotes The relationship between the clinical severity of osteogenesis imperfecta (OI) and the location and type of amino acid substitution in type I collagen is not identical for mutations in the alpha 1(I) and alpha 2(I) chains.
TextSentencer_T4 396-566 Sentence denotes Furthermore, the alpha 2(I) chain, once thought to be associated with moderate forms of OI, has now been associated with approximately as many lethal as non-lethal cases.
T4 396-566 Sentence denotes Furthermore, the alpha 2(I) chain, once thought to be associated with moderate forms of OI, has now been associated with approximately as many lethal as non-lethal cases.
TextSentencer_T5 567-739 Sentence denotes We describe two novel substitutions for glycine in the alpha 2(I) chain, one associated with a lethal phenotype in twins and the other with a moderate non-lethal phenotype.
T5 567-739 Sentence denotes We describe two novel substitutions for glycine in the alpha 2(I) chain, one associated with a lethal phenotype in twins and the other with a moderate non-lethal phenotype.
TextSentencer_T6 740-892 Sentence denotes The type I collagen of all probands was characterized electrophoretically by two populations of alpha chains, one normal and one with delayed migration.
T6 740-892 Sentence denotes The type I collagen of all probands was characterized electrophoretically by two populations of alpha chains, one normal and one with delayed migration.
TextSentencer_T7 893-1011 Sentence denotes Cyanogen bromide peptides of the overmodified alpha 1(I) chains revealed delayed migration of all peptides except CB6.
T7 893-1011 Sentence denotes Cyanogen bromide peptides of the overmodified alpha 1(I) chains revealed delayed migration of all peptides except CB6.
TextSentencer_T8 1012-1153 Sentence denotes The indicated target region of alpha 1(I) and alpha 2(I) cDNA of the probands was analyzed by RNA-DNA hybrid analysis with RNase A digestion.
T8 1012-1153 Sentence denotes The indicated target region of alpha 1(I) and alpha 2(I) cDNA of the probands was analyzed by RNA-DNA hybrid analysis with RNase A digestion.
TextSentencer_T9 1154-1241 Sentence denotes All probands had mismatches in the region of alpha 2(I) coding for amino acids 642-912.
T9 1154-1241 Sentence denotes All probands had mismatches in the region of alpha 2(I) coding for amino acids 642-912.
TextSentencer_T10 1242-1403 Sentence denotes The lethal phenotype was associated with a G-->A mutation, resulting in Gly706-->serine; the non-lethal mutation was a G-->T change resulting in Gly676-->valine.
T10 1242-1403 Sentence denotes The lethal phenotype was associated with a G-->A mutation, resulting in Gly706-->serine; the non-lethal mutation was a G-->T change resulting in Gly676-->valine.
TextSentencer_T11 1404-1487 Sentence denotes Both mutations occurred de novo in the probands; parental leukocyte DNA was normal.
T11 1404-1487 Sentence denotes Both mutations occurred de novo in the probands; parental leukocyte DNA was normal.
TextSentencer_T12 1488-1743 Sentence denotes In conjunction with the previously described exon deletions and point mutations in alpha 2(I), these mutations define five alternating non-lethal/lethal regions along the chain and support a regional, as opposed to a gradient, model of OI pathophysiology.
T12 1488-1743 Sentence denotes In conjunction with the previously described exon deletions and point mutations in alpha 2(I), these mutations define five alternating non-lethal/lethal regions along the chain and support a regional, as opposed to a gradient, model of OI pathophysiology.
TextSentencer_T13 1744-1853 Sentence denotes These mutations in particular help to define a lethal/non-lethal junction at about alpha 2(I) amino acid 700.
T13 1744-1853 Sentence denotes These mutations in particular help to define a lethal/non-lethal junction at about alpha 2(I) amino acid 700.