FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022363938> ?p ?o ?g. }

• W2022363938 endingPage "2757" @default.
• W2022363938 startingPage "2753" @default.
• W2022363938 abstract "Severe von Willebrand disease is characterized by undetectable or trace quantities of von Willebrand factor in plasma and tissue stores. We have studied the genomic DNA of 10 affected individuals from six families with this disorder using probes from the 5' and 3' ends of the vWF cDNA and with a probe extending from the 5' end into the central region. Southern blots of restriction endonuclease digests and gene dosage analysis measurements carried out with quantitative slot blots of undigested genomic DNA separated these patients into three groups. The first group consisted of a family with complete homozygous deletions of the vWF gene in the four probands. Gene dosage analysis was consistent with heterozygous deletions in both of the asymptomatic parents and four asymptomatic siblings of this kindred (P less than 0.01). The second group was comprised of a family in which there was a complete heterozygous deletion of the vWF gene in the proband and one asymptomatic parent, suggesting that a different type of genetic abnormality was inherited from the other parent. Thus, the patient appeared to be doubly heterozygous for interacting genetic abnormalities affecting vWF expression. In the third group, no gene deletions could be detected. Alloantibodies developed only in the kindred with homozygous deletions. These techniques should prove useful in identifying carriers of severe von Willebrand disease and also in defining patients predictably at risk of developing alloantibodies to vWF." @default.
• W2022363938 created "2016-06-24" @default.
• W2022363938 creator A5008136405 @default.
• W2022363938 creator A5023942606 @default.
• W2022363938 creator A5030672871 @default.
• W2022363938 creator A5030867829 @default.
• W2022363938 creator A5042068569 @default.
• W2022363938 creator A5053398669 @default.
• W2022363938 creator A5073844113 @default.
• W2022363938 creator A5084109223 @default.
• W2022363938 creator A5089613827 @default.
• W2022363938 date "1988-04-01" @default.
• W2022363938 modified "2023-10-15" @default.
• W2022363938 title "Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease." @default.
• W2022363938 cites W162081911 @default.
• W2022363938 cites W1965790897 @default.
• W2022363938 cites W1972627912 @default.
• W2022363938 cites W1973231476 @default.
• W2022363938 cites W1974882615 @default.
• W2022363938 cites W1988753748 @default.
• W2022363938 cites W1998753515 @default.
• W2022363938 cites W2003381021 @default.
• W2022363938 cites W2011400825 @default.
• W2022363938 cites W2016638271 @default.
• W2022363938 cites W2029708892 @default.
• W2022363938 cites W2036903205 @default.
• W2022363938 cites W2043793086 @default.
• W2022363938 cites W2049586830 @default.
• W2022363938 cites W2076354748 @default.
• W2022363938 cites W2078314103 @default.
• W2022363938 cites W2079599722 @default.
• W2022363938 cites W2108093102 @default.
• W2022363938 cites W2122385641 @default.
• W2022363938 cites W97948080 @default.
• W2022363938 doi "https://doi.org/10.1073/pnas.85.8.2753" @default.
• W2022363938 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/280077" @default.
• W2022363938 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3258663" @default.
• W2022363938 hasPublicationYear "1988" @default.
• W2022363938 type Work @default.
• W2022363938 sameAs 2022363938 @default.
• W2022363938 citedByCount "92" @default.
• W2022363938 countsByYear W20223639382012 @default.
• W2022363938 countsByYear W20223639382013 @default.
• W2022363938 countsByYear W20223639382014 @default.
• W2022363938 countsByYear W20223639382015 @default.
• W2022363938 countsByYear W20223639382017 @default.
• W2022363938 countsByYear W20223639382018 @default.
• W2022363938 crossrefType "journal-article" @default.
• W2022363938 hasAuthorship W2022363938A5008136405 @default.
• W2022363938 hasAuthorship W2022363938A5023942606 @default.
• W2022363938 hasAuthorship W2022363938A5030672871 @default.
• W2022363938 hasAuthorship W2022363938A5030867829 @default.
• W2022363938 hasAuthorship W2022363938A5042068569 @default.
• W2022363938 hasAuthorship W2022363938A5053398669 @default.
• W2022363938 hasAuthorship W2022363938A5073844113 @default.
• W2022363938 hasAuthorship W2022363938A5084109223 @default.
• W2022363938 hasAuthorship W2022363938A5089613827 @default.
• W2022363938 hasBestOaLocation W20223639382 @default.
• W2022363938 hasConcept C104317684 @default.
• W2022363938 hasConcept C12125453 @default.
• W2022363938 hasConcept C126322002 @default.
• W2022363938 hasConcept C133307689 @default.
• W2022363938 hasConcept C137916694 @default.
• W2022363938 hasConcept C153911025 @default.
• W2022363938 hasConcept C180754005 @default.
• W2022363938 hasConcept C188997412 @default.
• W2022363938 hasConcept C203014093 @default.
• W2022363938 hasConcept C2777910003 @default.
• W2022363938 hasConcept C2778780528 @default.
• W2022363938 hasConcept C2779394231 @default.
• W2022363938 hasConcept C501734568 @default.
• W2022363938 hasConcept C54355233 @default.
• W2022363938 hasConcept C71924100 @default.
• W2022363938 hasConcept C86803240 @default.
• W2022363938 hasConcept C89560881 @default.
• W2022363938 hasConceptScore W2022363938C104317684 @default.
• W2022363938 hasConceptScore W2022363938C12125453 @default.
• W2022363938 hasConceptScore W2022363938C126322002 @default.
• W2022363938 hasConceptScore W2022363938C133307689 @default.
• W2022363938 hasConceptScore W2022363938C137916694 @default.
• W2022363938 hasConceptScore W2022363938C153911025 @default.
• W2022363938 hasConceptScore W2022363938C180754005 @default.
• W2022363938 hasConceptScore W2022363938C188997412 @default.
• W2022363938 hasConceptScore W2022363938C203014093 @default.
• W2022363938 hasConceptScore W2022363938C2777910003 @default.
• W2022363938 hasConceptScore W2022363938C2778780528 @default.
• W2022363938 hasConceptScore W2022363938C2779394231 @default.
• W2022363938 hasConceptScore W2022363938C501734568 @default.
• W2022363938 hasConceptScore W2022363938C54355233 @default.
• W2022363938 hasConceptScore W2022363938C71924100 @default.
• W2022363938 hasConceptScore W2022363938C86803240 @default.
• W2022363938 hasConceptScore W2022363938C89560881 @default.
• W2022363938 hasIssue "8" @default.
• W2022363938 hasLocation W20223639381 @default.
• W2022363938 hasLocation W20223639382 @default.
• W2022363938 hasLocation W20223639383 @default.
• W2022363938 hasLocation W20223639384 @default.
• W2022363938 hasOpenAccess W2022363938 @default.

• next