| Id |
Subject |
Object |
Predicate |
Lexical cue |
| TextSentencer_T1 |
0-119 |
Sentence |
denotes |
Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? |
| T1 |
0-119 |
Sentence |
denotes |
Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? |
| TextSentencer_T2 |
120-292 |
Sentence |
denotes |
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis. |
| T2 |
120-292 |
Sentence |
denotes |
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis. |
| TextSentencer_T3 |
293-425 |
Sentence |
denotes |
This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes. |
| T3 |
293-425 |
Sentence |
denotes |
This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes. |
| TextSentencer_T4 |
426-532 |
Sentence |
denotes |
Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely. |
| T4 |
426-532 |
Sentence |
denotes |
Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely. |
| TextSentencer_T5 |
533-657 |
Sentence |
denotes |
Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain. |
| T5 |
533-657 |
Sentence |
denotes |
Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain. |
| TextSentencer_T6 |
658-774 |
Sentence |
denotes |
The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous. |
| T6 |
658-774 |
Sentence |
denotes |
The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous. |
| TextSentencer_T7 |
775-974 |
Sentence |
denotes |
The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype. |
| T7 |
775-974 |
Sentence |
denotes |
The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype. |
| TextSentencer_T8 |
975-1127 |
Sentence |
denotes |
The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive. |
| T8 |
975-1127 |
Sentence |
denotes |
The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive. |