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PubMed:8528199 JSONTXT 16 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-78 Sentence denotes WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
T1 0-78 Sentence denotes WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
TextSentencer_T2 79-213 Sentence denotes The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome (WAS).
T2 79-213 Sentence denotes The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome (WAS).
TextSentencer_T3 214-392 Sentence denotes We have developed a screening protocol for identifying WASP gene alterations in genomic DNA and have identified a spectrum of novel mutations in 12 additional unrelated families.
T3 214-392 Sentence denotes We have developed a screening protocol for identifying WASP gene alterations in genomic DNA and have identified a spectrum of novel mutations in 12 additional unrelated families.
TextSentencer_T4 393-485 Sentence denotes These missense, nonsense and frameshift mutations involve eight of the 12 exons of the gene.
T4 393-485 Sentence denotes These missense, nonsense and frameshift mutations involve eight of the 12 exons of the gene.
TextSentencer_T5 486-601 Sentence denotes Two mutations creating premature termination codons were associated with lack of detectable mRNA on Northern blots.
T5 486-601 Sentence denotes Two mutations creating premature termination codons were associated with lack of detectable mRNA on Northern blots.
TextSentencer_T6 602-876 Sentence denotes Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
T6 602-876 Sentence denotes Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
TextSentencer_T7 877-1115 Sentence denotes A T-cell line from a WAS patient contained two independent DNA alterations, a constitutional frameshift mutation, also present in peripheral blood leukocytes from the patient, and compensatory splice site mutation unique to the cell line.
T7 877-1115 Sentence denotes A T-cell line from a WAS patient contained two independent DNA alterations, a constitutional frameshift mutation, also present in peripheral blood leukocytes from the patient, and compensatory splice site mutation unique to the cell line.
TextSentencer_T8 1116-1329 Sentence denotes The distribution of eight missense mutations provides valuable information on amino acids which are essential for normal protein function, and suggests that sites in the first two exons are hot-spots for mutation.
T8 1116-1329 Sentence denotes The distribution of eight missense mutations provides valuable information on amino acids which are essential for normal protein function, and suggests that sites in the first two exons are hot-spots for mutation.