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PubMed:8500791 JSONTXT 16 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
T1 0-89 Sentence denotes Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
TextSentencer_T2 90-315 Sentence denotes The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor (vWF).
T2 90-315 Sentence denotes The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor (vWF).
TextSentencer_T3 316-463 Sentence denotes This report describes the autosomal inheritance of a hemophilia A phenotype due to a mutation of vWF that results in defective factor VIII binding.
T3 316-463 Sentence denotes This report describes the autosomal inheritance of a hemophilia A phenotype due to a mutation of vWF that results in defective factor VIII binding.
TextSentencer_T4 464-537 Sentence denotes The proband was a female patient with low levels of factor VIII activity.
T4 464-537 Sentence denotes The proband was a female patient with low levels of factor VIII activity.
TextSentencer_T5 538-690 Sentence denotes Polymerase chain reaction (PCR) amplification and DNA sequencing were employed to examine exons encoding the putative factor VIII binding domain of vWF.
T5 538-690 Sentence denotes Polymerase chain reaction (PCR) amplification and DNA sequencing were employed to examine exons encoding the putative factor VIII binding domain of vWF.
TextSentencer_T6 691-843 Sentence denotes The patient was found to be homozygous for a single point mutation causing a Thr-->Met substitution at amino acid position 28 in the mature vWF subunit.
T6 691-843 Sentence denotes The patient was found to be homozygous for a single point mutation causing a Thr-->Met substitution at amino acid position 28 in the mature vWF subunit.
TextSentencer_T7 844-980 Sentence denotes The phenotypic expression of the mutation was determined to be recessive because heterozygous family members were clinically unaffected.
T7 844-980 Sentence denotes The phenotypic expression of the mutation was determined to be recessive because heterozygous family members were clinically unaffected.
TextSentencer_T8 981-1074 Sentence denotes Recombinant vWF containing the observed amino acid substitution was expressed in COS-1 cells.
T8 981-1074 Sentence denotes Recombinant vWF containing the observed amino acid substitution was expressed in COS-1 cells.
TextSentencer_T9 1075-1212 Sentence denotes The mutant vWF was processed and secreted normally, and was functionally equivalent to wild-type vWF in its ability to bind to platelets.
T9 1075-1212 Sentence denotes The mutant vWF was processed and secreted normally, and was functionally equivalent to wild-type vWF in its ability to bind to platelets.
TextSentencer_T10 1213-1355 Sentence denotes However, the mutant failed to bind factor VIII, demonstrating that the mutation was functionally related to the observed hemophilia phenotype.
T10 1213-1355 Sentence denotes However, the mutant failed to bind factor VIII, demonstrating that the mutation was functionally related to the observed hemophilia phenotype.
TextSentencer_T11 1356-1685 Sentence denotes The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders, we call "autosomal hemophilia." We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent with X-linked transmission.
T11 1356-1685 Sentence denotes The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders, we call "autosomal hemophilia." We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent with X-linked transmission.