Matches in SemOpenAlex for { <https://semopenalex.org/work/W1888006989> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W1888006989 endingPage "840" @default.
- W1888006989 startingPage "833" @default.
- W1888006989 abstract "Summary Coagulation factor XI (FXI) deficiency is an inherited autosomal recessive mild bleeding disorder. In this study, we report the molecular genetic analysis of FXI deficiency in six unrelated families of Portuguese origin. The Jewish type II mutation was found in two families, of seemingly Portuguese origin. Haplotype analysis in these families demonstrated that this mutation is of Jewish origin. In the remaining families, five novel FXI mutations have been identified. Two of these mutations (FXI IVS K -10T→A and FXI 1026G→T, cd 324) affect the FXI pre-mRNA splicing. A further two (FXI 307 ins AAGCAAT, cd 85 and FXI 1072 del A, cd 340) introduce frameshifts leading to premature termination codons. The FXI splicing mutation, 1026G→T cd 324, was found in compound heterozygosity with missense mutation FXI K518N. Analysis of the FXI mRNA from the latter genotype demonstrated new donor splice site usage. All reported mutations most likely result in functional null-alleles. In addition, three novel polymorphisms have been identified: at nt -138 in intron A, at codon D125 in exon 5 and at codon T249 in exon 8." @default.
- W1888006989 created "2016-06-24" @default.
- W1888006989 creator A5008467273 @default.
- W1888006989 creator A5014008768 @default.
- W1888006989 creator A5024675693 @default.
- W1888006989 creator A5047601628 @default.
- W1888006989 creator A5072932215 @default.
- W1888006989 creator A5085272167 @default.
- W1888006989 creator A5091618056 @default.
- W1888006989 date "2000-01-01" @default.
- W1888006989 modified "2023-09-23" @default.
- W1888006989 title "Molecular Genetic Analysis of Factor XI Deficiency: Identification of Five Novel Gene Alterations and the Origin of Type II Mutation in Portuguese Families" @default.
- W1888006989 doi "https://doi.org/10.1055/s-0037-1614125" @default.
- W1888006989 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11127865" @default.
- W1888006989 hasPublicationYear "2000" @default.
- W1888006989 type Work @default.
- W1888006989 sameAs 1888006989 @default.
- W1888006989 citedByCount "26" @default.
- W1888006989 countsByYear W18880069892013 @default.
- W1888006989 countsByYear W18880069892016 @default.
- W1888006989 countsByYear W18880069892017 @default.
- W1888006989 countsByYear W18880069892018 @default.
- W1888006989 countsByYear W18880069892022 @default.
- W1888006989 crossrefType "journal-article" @default.
- W1888006989 hasAuthorship W1888006989A5008467273 @default.
- W1888006989 hasAuthorship W1888006989A5014008768 @default.
- W1888006989 hasAuthorship W1888006989A5024675693 @default.
- W1888006989 hasAuthorship W1888006989A5047601628 @default.
- W1888006989 hasAuthorship W1888006989A5072932215 @default.
- W1888006989 hasAuthorship W1888006989A5085272167 @default.
- W1888006989 hasAuthorship W1888006989A5091618056 @default.
- W1888006989 hasConcept C104317684 @default.
- W1888006989 hasConcept C12125453 @default.
- W1888006989 hasConcept C126322002 @default.
- W1888006989 hasConcept C135763542 @default.
- W1888006989 hasConcept C15045988 @default.
- W1888006989 hasConcept C163565370 @default.
- W1888006989 hasConcept C180754005 @default.
- W1888006989 hasConcept C197754878 @default.
- W1888006989 hasConcept C20580545 @default.
- W1888006989 hasConcept C2778382381 @default.
- W1888006989 hasConcept C36823959 @default.
- W1888006989 hasConcept C501734568 @default.
- W1888006989 hasConcept C54355233 @default.
- W1888006989 hasConcept C71924100 @default.
- W1888006989 hasConcept C75563809 @default.
- W1888006989 hasConcept C86803240 @default.
- W1888006989 hasConcept C94671646 @default.
- W1888006989 hasConceptScore W1888006989C104317684 @default.
- W1888006989 hasConceptScore W1888006989C12125453 @default.
- W1888006989 hasConceptScore W1888006989C126322002 @default.
- W1888006989 hasConceptScore W1888006989C135763542 @default.
- W1888006989 hasConceptScore W1888006989C15045988 @default.
- W1888006989 hasConceptScore W1888006989C163565370 @default.
- W1888006989 hasConceptScore W1888006989C180754005 @default.
- W1888006989 hasConceptScore W1888006989C197754878 @default.
- W1888006989 hasConceptScore W1888006989C20580545 @default.
- W1888006989 hasConceptScore W1888006989C2778382381 @default.
- W1888006989 hasConceptScore W1888006989C36823959 @default.
- W1888006989 hasConceptScore W1888006989C501734568 @default.
- W1888006989 hasConceptScore W1888006989C54355233 @default.
- W1888006989 hasConceptScore W1888006989C71924100 @default.
- W1888006989 hasConceptScore W1888006989C75563809 @default.
- W1888006989 hasConceptScore W1888006989C86803240 @default.
- W1888006989 hasConceptScore W1888006989C94671646 @default.
- W1888006989 hasIssue "11" @default.
- W1888006989 hasLocation W18880069891 @default.
- W1888006989 hasLocation W18880069892 @default.
- W1888006989 hasOpenAccess W1888006989 @default.
- W1888006989 hasPrimaryLocation W18880069891 @default.
- W1888006989 hasRelatedWork W1973942562 @default.
- W1888006989 hasRelatedWork W1975253683 @default.
- W1888006989 hasRelatedWork W1979176079 @default.
- W1888006989 hasRelatedWork W2060169551 @default.
- W1888006989 hasRelatedWork W2079430370 @default.
- W1888006989 hasRelatedWork W2104429502 @default.
- W1888006989 hasRelatedWork W2349400098 @default.
- W1888006989 hasRelatedWork W2362650105 @default.
- W1888006989 hasRelatedWork W2410343021 @default.
- W1888006989 hasRelatedWork W3147624935 @default.
- W1888006989 hasVolume "84" @default.
- W1888006989 isParatext "false" @default.
- W1888006989 isRetracted "false" @default.
- W1888006989 magId "1888006989" @default.
- W1888006989 workType "article" @default.