FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2315253685> ?p ?o ?g. }

• W2315253685 endingPage "68" @default.
• W2315253685 startingPage "63" @default.
• W2315253685 abstract "Factor XI (FXI) deficiency is an autosomal bleeding disorder characterized by variable bleeding tendency. In the present study, the gene encoding FXI (F11) was analyzed by direct sequencing in 33 individuals belonging to 11 unrelated Turkish families, and the bleeding tendency was quantitatively assessed by means of a bleeding questionnaire in 27 individuals with low FXI clotting activity and/or mutated F11 gene. We identified 10 distinct mutations (five missense, three nonsense and two splice site), four of which were novel. No mutation was found in one family. Of the four novel mutations, homozygosity for a c.89T>C (p.Phe30Ser) mutation and compound heterozygosity for a c.646G>A (p.Asp216Asn) mutation with the known c.403G>T (p.Glu135*) type II Jewish mutation were associated with severe deficiency, whilst heterozygosity for the novel c.1655A>C (p.His552Arg) and c.1627G>A (p.Glu543Lys) mutations was associated with partial deficiency. p.Glu135* was found in 19% (5/27) of the mutated alleles. Bleeding score was positive in 57% (4/7) of individuals with severe and 39% (7/18) of those with partial deficiency. It was significantly correlated with clinical severity of bleeding (r = 0.43, P = 0.02), but not with FXI clotting activity (P > 0.05). There was no optimal cut-off level of the bleeding score that could predict FXI deficiency. We conclude that the spectrum of mutations found in this study reflects the genetic heterogeneity of FXI deficiency in the Turkish population. Quantitative assessment of the bleeding symptoms by a bleeding questionnaire seems to be useful for evaluating the severity of bleeding episodes, but it can not be recommended as a screening tool for FXI deficiency." @default.
• W2315253685 created "2016-06-24" @default.
• W2315253685 creator A5019655973 @default.
• W2315253685 creator A5022941389 @default.
• W2315253685 creator A5023223877 @default.
• W2315253685 creator A5040524701 @default.
• W2315253685 creator A5041078773 @default.
• W2315253685 creator A5057859798 @default.
• W2315253685 creator A5078821678 @default.
• W2315253685 creator A5079174194 @default.
• W2315253685 date "2015-01-01" @default.
• W2315253685 modified "2023-10-18" @default.
• W2315253685 title "Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families" @default.
• W2315253685 cites W1496174784 @default.
• W2315253685 cites W1504530782 @default.
• W2315253685 cites W1636726289 @default.
• W2315253685 cites W166315382 @default.
• W2315253685 cites W179800333 @default.
• W2315253685 cites W1973167817 @default.
• W2315253685 cites W1985277533 @default.
• W2315253685 cites W1996644431 @default.
• W2315253685 cites W2004721076 @default.
• W2315253685 cites W2007847664 @default.
• W2315253685 cites W2012197767 @default.
• W2315253685 cites W2019835797 @default.
• W2315253685 cites W2056572494 @default.
• W2315253685 cites W2059554440 @default.
• W2315253685 cites W2060744593 @default.
• W2315253685 cites W2070885572 @default.
• W2315253685 cites W2078477263 @default.
• W2315253685 cites W2106654475 @default.
• W2315253685 cites W2130735492 @default.
• W2315253685 cites W2145871170 @default.
• W2315253685 cites W2148558556 @default.
• W2315253685 cites W2322400774 @default.
• W2315253685 cites W2412230954 @default.
• W2315253685 doi "https://doi.org/10.1097/mbc.0000000000000185" @default.
• W2315253685 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25158988" @default.
• W2315253685 hasPublicationYear "2015" @default.
• W2315253685 type Work @default.
• W2315253685 sameAs 2315253685 @default.
• W2315253685 citedByCount "7" @default.
• W2315253685 countsByYear W23152536852017 @default.
• W2315253685 countsByYear W23152536852018 @default.
• W2315253685 countsByYear W23152536852020 @default.
• W2315253685 countsByYear W23152536852022 @default.
• W2315253685 crossrefType "journal-article" @default.
• W2315253685 hasAuthorship W2315253685A5019655973 @default.
• W2315253685 hasAuthorship W2315253685A5022941389 @default.
• W2315253685 hasAuthorship W2315253685A5023223877 @default.
• W2315253685 hasAuthorship W2315253685A5040524701 @default.
• W2315253685 hasAuthorship W2315253685A5041078773 @default.
• W2315253685 hasAuthorship W2315253685A5057859798 @default.
• W2315253685 hasAuthorship W2315253685A5078821678 @default.
• W2315253685 hasAuthorship W2315253685A5079174194 @default.
• W2315253685 hasConcept C104317684 @default.
• W2315253685 hasConcept C12125453 @default.
• W2315253685 hasConcept C126322002 @default.
• W2315253685 hasConcept C143589142 @default.
• W2315253685 hasConcept C15045988 @default.
• W2315253685 hasConcept C180754005 @default.
• W2315253685 hasConcept C2778382381 @default.
• W2315253685 hasConcept C2992139802 @default.
• W2315253685 hasConcept C501734568 @default.
• W2315253685 hasConcept C54355233 @default.
• W2315253685 hasConcept C71924100 @default.
• W2315253685 hasConcept C75563809 @default.
• W2315253685 hasConcept C86803240 @default.
• W2315253685 hasConcept C90924648 @default.
• W2315253685 hasConcept C96777560 @default.
• W2315253685 hasConceptScore W2315253685C104317684 @default.
• W2315253685 hasConceptScore W2315253685C12125453 @default.
• W2315253685 hasConceptScore W2315253685C126322002 @default.
• W2315253685 hasConceptScore W2315253685C143589142 @default.
• W2315253685 hasConceptScore W2315253685C15045988 @default.
• W2315253685 hasConceptScore W2315253685C180754005 @default.
• W2315253685 hasConceptScore W2315253685C2778382381 @default.
• W2315253685 hasConceptScore W2315253685C2992139802 @default.
• W2315253685 hasConceptScore W2315253685C501734568 @default.
• W2315253685 hasConceptScore W2315253685C54355233 @default.
• W2315253685 hasConceptScore W2315253685C71924100 @default.
• W2315253685 hasConceptScore W2315253685C75563809 @default.
• W2315253685 hasConceptScore W2315253685C86803240 @default.
• W2315253685 hasConceptScore W2315253685C90924648 @default.
• W2315253685 hasConceptScore W2315253685C96777560 @default.
• W2315253685 hasIssue "1" @default.
• W2315253685 hasLocation W23152536851 @default.
• W2315253685 hasLocation W23152536852 @default.
• W2315253685 hasOpenAccess W2315253685 @default.
• W2315253685 hasPrimaryLocation W23152536851 @default.
• W2315253685 hasRelatedWork W1540914548 @default.
• W2315253685 hasRelatedWork W1973167817 @default.
• W2315253685 hasRelatedWork W2005183124 @default.
• W2315253685 hasRelatedWork W2046460270 @default.
• W2315253685 hasRelatedWork W2056572494 @default.
• W2315253685 hasRelatedWork W2104429502 @default.
• W2315253685 hasRelatedWork W2118005921 @default.
• W2315253685 hasRelatedWork W2147323493 @default.

• next