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PubMed:8863162 JSONTXT 19 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-155 Sentence denotes Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
T1 0-155 Sentence denotes Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
TextSentencer_T2 156-318 Sentence denotes We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A.
T2 156-318 Sentence denotes We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A.
TextSentencer_T3 319-394 Sentence denotes While one of the twins was clinically affected, the other was asymptomatic.
T3 319-394 Sentence denotes While one of the twins was clinically affected, the other was asymptomatic.
TextSentencer_T4 395-702 Sentence denotes Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation.
T4 395-702 Sentence denotes Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation.
TextSentencer_T5 703-768 Sentence denotes The son of the unaffected twin sister was shown to be hemizygous.
T5 703-768 Sentence denotes The son of the unaffected twin sister was shown to be hemizygous.
TextSentencer_T6 769-972 Sentence denotes Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231.
T6 769-972 Sentence denotes Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231.
TextSentencer_T7 973-1117 Sentence denotes Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents.
T7 973-1117 Sentence denotes Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents.
TextSentencer_T8 1118-1252 Sentence denotes The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status.
T8 1118-1252 Sentence denotes The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status.
TextSentencer_T9 1253-1415 Sentence denotes Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions.
T9 1253-1415 Sentence denotes Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions.
TextSentencer_T10 1416-1615 Sentence denotes While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew.
T10 1416-1615 Sentence denotes While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew.
TextSentencer_T11 1616-1833 Sentence denotes These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair.
T11 1616-1833 Sentence denotes These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair.
TextSentencer_T12 1834-1913 Sentence denotes This is the first documented case of female twins discordant for Fabry disease.
T12 1834-1913 Sentence denotes This is the first documented case of female twins discordant for Fabry disease.