FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2072562022> ?p ?o ?g. }

• W2072562022 endingPage "3861" @default.
• W2072562022 startingPage "3857" @default.
• W2072562022 abstract "von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, results from abnormalities in the plasma clotting protein von Willebrand factor (vWF). Severe (type III) vWD is autosomal recessive in inheritance and is associated with extremely low or undetectable vWF levels. We report a method designed to distinguish mRNA expression from the two vWF alleles by PCR analysis of peripheral blood platelet RNA using DNA sequence polymorphisms located within exons of the vWF gene. This approach was applied to a severe-vWD pedigree in which three of eight siblings are affected and the parents and additional siblings are clinically normal. Each parent was shown to carry a vWF allele that is silent at the mRNA level. Family members inheriting both abnormal alleles are affected with severe vWD, whereas individuals with only one abnormal allele are asymptomatic. The maternal and paternal silent alleles are identical at two coding sequence polymorphisms as well as an intron 40 variable number tandem repeat, suggesting a possible common origin. Given the frequencies of the two exon polymorphisms reported here, this analysis should be applicable to approximately 70% of type I and type III vWD patients. This comparative DNA and RNA PCR-restriction fragment length polymorphism approach may also prove useful in identifying defects at the level of gene expression associated with other genetic disorders." @default.
• W2072562022 created "2016-06-24" @default.
• W2072562022 creator A5036704571 @default.
• W2072562022 creator A5046246342 @default.
• W2072562022 creator A5071223660 @default.
• W2072562022 creator A5075023154 @default.
• W2072562022 creator A5080477077 @default.
• W2072562022 date "1991-05-01" @default.
• W2072562022 modified "2023-10-15" @default.
• W2072562022 title "Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis." @default.
• W2072562022 cites W1568354704 @default.
• W2072562022 cites W1578091636 @default.
• W2072562022 cites W1581087233 @default.
• W2072562022 cites W1595054008 @default.
• W2072562022 cites W1606877980 @default.
• W2072562022 cites W1618588028 @default.
• W2072562022 cites W1973231476 @default.
• W2072562022 cites W1973508723 @default.
• W2072562022 cites W1978394984 @default.
• W2072562022 cites W1982448425 @default.
• W2072562022 cites W1985288028 @default.
• W2072562022 cites W1992831077 @default.
• W2072562022 cites W1998753515 @default.
• W2072562022 cites W1999200731 @default.
• W2072562022 cites W2003381021 @default.
• W2072562022 cites W2010580702 @default.
• W2072562022 cites W2011135786 @default.
• W2072562022 cites W2012045247 @default.
• W2072562022 cites W2014669590 @default.
• W2072562022 cites W2022363938 @default.
• W2072562022 cites W2035325784 @default.
• W2072562022 cites W2076354748 @default.
• W2072562022 cites W2078314103 @default.
• W2072562022 cites W2079971383 @default.
• W2072562022 cites W2095137250 @default.
• W2072562022 cites W2108093102 @default.
• W2072562022 cites W2135860409 @default.
• W2072562022 cites W2147184989 @default.
• W2072562022 cites W2171216208 @default.
• W2072562022 cites W2276572970 @default.
• W2072562022 cites W2331408984 @default.
• W2072562022 cites W2416280615 @default.
• W2072562022 cites W2417634519 @default.
• W2072562022 cites W2468918822 @default.
• W2072562022 cites W262581128 @default.
• W2072562022 cites W3113274326 @default.
• W2072562022 cites W82496709 @default.
• W2072562022 cites W97948080 @default.
• W2072562022 doi "https://doi.org/10.1073/pnas.88.9.3857" @default.
• W2072562022 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/51552" @default.
• W2072562022 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1673793" @default.
• W2072562022 hasPublicationYear "1991" @default.
• W2072562022 type Work @default.
• W2072562022 sameAs 2072562022 @default.
• W2072562022 citedByCount "46" @default.
• W2072562022 countsByYear W20725620222012 @default.
• W2072562022 countsByYear W20725620222013 @default.
• W2072562022 countsByYear W20725620222016 @default.
• W2072562022 countsByYear W20725620222017 @default.
• W2072562022 countsByYear W20725620222021 @default.
• W2072562022 crossrefType "journal-article" @default.
• W2072562022 hasAuthorship W2072562022A5036704571 @default.
• W2072562022 hasAuthorship W2072562022A5046246342 @default.
• W2072562022 hasAuthorship W2072562022A5071223660 @default.
• W2072562022 hasAuthorship W2072562022A5075023154 @default.
• W2072562022 hasAuthorship W2072562022A5080477077 @default.
• W2072562022 hasBestOaLocation W20725620221 @default.
• W2072562022 hasConcept C104317684 @default.
• W2072562022 hasConcept C135763542 @default.
• W2072562022 hasConcept C153911025 @default.
• W2072562022 hasConcept C168007829 @default.
• W2072562022 hasConcept C180754005 @default.
• W2072562022 hasConcept C203014093 @default.
• W2072562022 hasConcept C2778780528 @default.
• W2072562022 hasConcept C2779394231 @default.
• W2072562022 hasConcept C36823959 @default.
• W2072562022 hasConcept C54355233 @default.
• W2072562022 hasConcept C86803240 @default.
• W2072562022 hasConcept C89560881 @default.
• W2072562022 hasConceptScore W2072562022C104317684 @default.
• W2072562022 hasConceptScore W2072562022C135763542 @default.
• W2072562022 hasConceptScore W2072562022C153911025 @default.
• W2072562022 hasConceptScore W2072562022C168007829 @default.
• W2072562022 hasConceptScore W2072562022C180754005 @default.
• W2072562022 hasConceptScore W2072562022C203014093 @default.
• W2072562022 hasConceptScore W2072562022C2778780528 @default.
• W2072562022 hasConceptScore W2072562022C2779394231 @default.
• W2072562022 hasConceptScore W2072562022C36823959 @default.
• W2072562022 hasConceptScore W2072562022C54355233 @default.
• W2072562022 hasConceptScore W2072562022C86803240 @default.
• W2072562022 hasConceptScore W2072562022C89560881 @default.
• W2072562022 hasIssue "9" @default.
• W2072562022 hasLocation W20725620221 @default.
• W2072562022 hasLocation W20725620222 @default.
• W2072562022 hasLocation W20725620223 @default.
• W2072562022 hasLocation W20725620224 @default.
• W2072562022 hasOpenAccess W2072562022 @default.
• W2072562022 hasPrimaryLocation W20725620221 @default.

• next