FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W137394201> ?p ?o ?g. }

• W137394201 endingPage "540" @default.
• W137394201 startingPage "536" @default.
• W137394201 abstract "Summary Type 3 von Willebrand disease is a rare autosomal disorder characterized by unmeasurable levels of von Willebrand factor and severe hemorrhagic symptoms. We studied a multiethnic group of 37 patients, from Italy (n = 14), Iran (n = 10) and India (n = 13) to identify the molecular defects and to evaluate genetic heterogeneity among these populations. Twenty-one patients (6 Italians, 9 Iranians and 6 Indians) were fully characterized at the molecular level. Twenty-four different gene alterations were identified, 20 of which have not been described previously. The majority of the mutations caused null alleles, 11 being nonsense mutations (Q218*, W222*, R365*, R373*, E644*, Q706*, S1338*, Q1346*, Y1542*, R1659*, E2129*), 4 small deletions (437delG, 2680delC, 6431delT, del 8491-8499), 3 possible splice site mutations [IVS9(-1)g→a, IVS29(+10)c→t, IVS40(-1)g → c], 3 candidate missense mutations (C275S, C2174G, C2804Y), 2 small insertions (7375insC, 7921insC) and 1 large gene deletion. The latter mutation was associated with the development of alloantibodies to VWF, but this complication was also found in a patient homozygous for a nonsense mutation (Q1346*). Due to the ethnic origin of the patients most of them were the offspring of consanguineous marriages and so were homozygous for the mutations found (18/21). Our results indicate that molecular defects responsible for type 3 VWD are scattered throughout the entire VWF gene (from exon 3 to 52), and that there is no prevalent and common gene defect in the three populations studied by us." @default.
• W137394201 created "2016-06-24" @default.
• W137394201 creator A5032393853 @default.
• W137394201 creator A5039491934 @default.
• W137394201 creator A5059596200 @default.
• W137394201 creator A5061651325 @default.
• W137394201 creator A5065489740 @default.
• W137394201 creator A5076604451 @default.
• W137394201 creator A5089228204 @default.
• W137394201 date "2000-01-01" @default.
• W137394201 modified "2023-10-15" @default.
• W137394201 title "Molecular Characterization of a Multiethnic Group of 21 Patients with Type 3 von Willebrand Disease" @default.
• W137394201 cites W103005575 @default.
• W137394201 cites W1540988218 @default.
• W137394201 cites W1572187526 @default.
• W137394201 cites W1581087233 @default.
• W137394201 cites W1595054008 @default.
• W137394201 cites W1605943061 @default.
• W137394201 cites W1899398196 @default.
• W137394201 cites W1996208119 @default.
• W137394201 cites W1999881321 @default.
• W137394201 cites W2003381021 @default.
• W137394201 cites W2005090339 @default.
• W137394201 cites W2037268137 @default.
• W137394201 cites W2083132651 @default.
• W137394201 cites W2092572451 @default.
• W137394201 cites W2107727025 @default.
• W137394201 cites W2144634347 @default.
• W137394201 cites W2400289792 @default.
• W137394201 cites W2410528479 @default.
• W137394201 cites W2411647676 @default.
• W137394201 cites W2472718981 @default.
• W137394201 cites W28685297 @default.
• W137394201 cites W3113274326 @default.
• W137394201 cites W38916664 @default.
• W137394201 cites W83591019 @default.
• W137394201 doi "https://doi.org/10.1055/s-0037-1614063" @default.
• W137394201 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11057846" @default.
• W137394201 hasPublicationYear "2000" @default.
• W137394201 type Work @default.
• W137394201 sameAs 137394201 @default.
• W137394201 citedByCount "60" @default.
• W137394201 countsByYear W1373942012012 @default.
• W137394201 countsByYear W1373942012014 @default.
• W137394201 countsByYear W1373942012015 @default.
• W137394201 countsByYear W1373942012016 @default.
• W137394201 countsByYear W1373942012017 @default.
• W137394201 countsByYear W1373942012018 @default.
• W137394201 countsByYear W1373942012019 @default.
• W137394201 countsByYear W1373942012020 @default.
• W137394201 countsByYear W1373942012021 @default.
• W137394201 countsByYear W1373942012023 @default.
• W137394201 crossrefType "journal-article" @default.
• W137394201 hasAuthorship W137394201A5032393853 @default.
• W137394201 hasAuthorship W137394201A5039491934 @default.
• W137394201 hasAuthorship W137394201A5059596200 @default.
• W137394201 hasAuthorship W137394201A5061651325 @default.
• W137394201 hasAuthorship W137394201A5065489740 @default.
• W137394201 hasAuthorship W137394201A5076604451 @default.
• W137394201 hasAuthorship W137394201A5089228204 @default.
• W137394201 hasConcept C104317684 @default.
• W137394201 hasConcept C12125453 @default.
• W137394201 hasConcept C153911025 @default.
• W137394201 hasConcept C180754005 @default.
• W137394201 hasConcept C203014093 @default.
• W137394201 hasConcept C2778780528 @default.
• W137394201 hasConcept C2779394231 @default.
• W137394201 hasConcept C36823959 @default.
• W137394201 hasConcept C501734568 @default.
• W137394201 hasConcept C54355233 @default.
• W137394201 hasConcept C71924100 @default.
• W137394201 hasConcept C75563809 @default.
• W137394201 hasConcept C86803240 @default.
• W137394201 hasConcept C89560881 @default.
• W137394201 hasConcept C96777560 @default.
• W137394201 hasConceptScore W137394201C104317684 @default.
• W137394201 hasConceptScore W137394201C12125453 @default.
• W137394201 hasConceptScore W137394201C153911025 @default.
• W137394201 hasConceptScore W137394201C180754005 @default.
• W137394201 hasConceptScore W137394201C203014093 @default.
• W137394201 hasConceptScore W137394201C2778780528 @default.
• W137394201 hasConceptScore W137394201C2779394231 @default.
• W137394201 hasConceptScore W137394201C36823959 @default.
• W137394201 hasConceptScore W137394201C501734568 @default.
• W137394201 hasConceptScore W137394201C54355233 @default.
• W137394201 hasConceptScore W137394201C71924100 @default.
• W137394201 hasConceptScore W137394201C75563809 @default.
• W137394201 hasConceptScore W137394201C86803240 @default.
• W137394201 hasConceptScore W137394201C89560881 @default.
• W137394201 hasConceptScore W137394201C96777560 @default.
• W137394201 hasIssue "10" @default.
• W137394201 hasLocation W1373942011 @default.
• W137394201 hasLocation W1373942012 @default.
• W137394201 hasOpenAccess W137394201 @default.
• W137394201 hasPrimaryLocation W1373942011 @default.
• W137394201 hasRelatedWork W1974547943 @default.
• W137394201 hasRelatedWork W2051832959 @default.
• W137394201 hasRelatedWork W2104430226 @default.

• next