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PubMed:1384323 JSONTXT 18 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-102 Sentence denotes A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
T1 0-102 Sentence denotes A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
TextSentencer_T2 103-195 Sentence denotes Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease.
T2 103-195 Sentence denotes Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease.
TextSentencer_T3 196-345 Sentence denotes However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described.
T3 196-345 Sentence denotes However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described.
TextSentencer_T4 346-565 Sentence denotes We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.
T4 346-565 Sentence denotes We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.
TextSentencer_T5 566-648 Sentence denotes Six additional pseudodeficient subjects were found to have the C739-to-T mutation.
T5 566-648 Sentence denotes Six additional pseudodeficient subjects were found to have the C739-to-T mutation.
TextSentencer_T6 649-860 Sentence denotes This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group.
T6 649-860 Sentence denotes This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group.
TextSentencer_T7 861-962 Sentence denotes The C739-to-T allele, together with a "true" Tay-Sachs disease allele, causes Hex A pseudodeficiency.
T7 861-962 Sentence denotes The C739-to-T allele, together with a "true" Tay-Sachs disease allele, causes Hex A pseudodeficiency.
TextSentencer_T8 963-1240 Sentence denotes Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential.
T8 963-1240 Sentence denotes Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential.
TextSentencer_T9 1241-1304 Sentence denotes This could prevent unnecessary or incorrect prenatal diagnoses.
T9 1241-1304 Sentence denotes This could prevent unnecessary or incorrect prenatal diagnoses.