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PubMed:1384324 JSONTXT 15 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-141 Sentence denotes Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
T1 0-141 Sentence denotes Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
TextSentencer_T2 142-303 Sentence denotes A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis.
T2 142-303 Sentence denotes A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis.
TextSentencer_T3 304-398 Sentence denotes RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family.
T3 304-398 Sentence denotes RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family.
TextSentencer_T4 399-572 Sentence denotes A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene.
T4 399-572 Sentence denotes A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene.
TextSentencer_T5 573-614 Sentence denotes The fetus was predicted to be unaffected.
T5 573-614 Sentence denotes The fetus was predicted to be unaffected.
TextSentencer_T6 615-801 Sentence denotes Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus.
T6 615-801 Sentence denotes Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus.
TextSentencer_T7 802-1018 Sentence denotes As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family.
T7 802-1018 Sentence denotes As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family.
TextSentencer_T8 1019-1171 Sentence denotes In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668.
T8 1019-1171 Sentence denotes In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668.
TextSentencer_T9 1172-1257 Sentence denotes This results in a Leu-to-Pro change in a carrier mother and in her two affected sons.
T9 1172-1257 Sentence denotes This results in a Leu-to-Pro change in a carrier mother and in her two affected sons.
TextSentencer_T10 1258-1410 Sentence denotes These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis.
T10 1258-1410 Sentence denotes These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis.