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. |