Matches in SemOpenAlex for { <https://semopenalex.org/work/W1982458683> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W1982458683 endingPage "772" @default.
- W1982458683 startingPage "769" @default.
- W1982458683 abstract "Summary Molecular analysis has been performed on a patient with coagulation factor XIII A subunit deficiency. A previously published genomic sequence indicates that exon 3 of the factor XIII A subunit gene contains two TaqI restriction sites within which arginine (CGA)→stop (TGA) nonsense mutations are possible. Oligonucleotide primers were therefore used to amplify exon 4 by the polymerase chain reaction. TaqI digestion of the 326 base pair (bp) product derived from normal genomic DNA yielded expected fragments of 244, 73 and 9 bp in size. In the case of the patient, however, an additional fragment of 253 bp was present. Direct sequence analysis showed that the 5′ TaqI site had been lost from one allele by a C→T transition at nucleotide 598. Family studies demonstrated the mutation in the patient's father but no other first-degree relatives. This is the third independent mutation described in the factor XIII A subunit gene and the first to be identified in a patient compound heterozygous for the disorder." @default.
- W1982458683 created "2016-06-24" @default.
- W1982458683 creator A5022598200 @default.
- W1982458683 creator A5083169786 @default.
- W1982458683 date "1993-12-01" @default.
- W1982458683 modified "2023-09-23" @default.
- W1982458683 title "Factor XIII A<sub>Bristol 1</sub>: detection of a nonsense mutation (Arg<sup>171</sup>→+stop codon) in factor XIII A subunit deficiency" @default.
- W1982458683 cites W1067939983 @default.
- W1982458683 cites W1532891297 @default.
- W1982458683 cites W1538720735 @default.
- W1982458683 cites W1955011237 @default.
- W1982458683 cites W1987708536 @default.
- W1982458683 cites W1990502944 @default.
- W1982458683 cites W1994360903 @default.
- W1982458683 cites W1997226580 @default.
- W1982458683 cites W2007550436 @default.
- W1982458683 cites W2020782906 @default.
- W1982458683 cites W2022443697 @default.
- W1982458683 cites W2029852603 @default.
- W1982458683 cites W2032118018 @default.
- W1982458683 cites W2038718616 @default.
- W1982458683 cites W2072063319 @default.
- W1982458683 cites W2075484343 @default.
- W1982458683 cites W2082034886 @default.
- W1982458683 cites W4246266059 @default.
- W1982458683 doi "https://doi.org/10.1111/j.1365-2141.1993.tb03221.x" @default.
- W1982458683 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7918041" @default.
- W1982458683 hasPublicationYear "1993" @default.
- W1982458683 type Work @default.
- W1982458683 sameAs 1982458683 @default.
- W1982458683 citedByCount "27" @default.
- W1982458683 countsByYear W19824586832013 @default.
- W1982458683 countsByYear W19824586832016 @default.
- W1982458683 countsByYear W19824586832020 @default.
- W1982458683 countsByYear W19824586832023 @default.
- W1982458683 crossrefType "journal-article" @default.
- W1982458683 hasAuthorship W1982458683A5022598200 @default.
- W1982458683 hasAuthorship W1982458683A5083169786 @default.
- W1982458683 hasConcept C104317684 @default.
- W1982458683 hasConcept C128319531 @default.
- W1982458683 hasConcept C153911025 @default.
- W1982458683 hasConcept C168007829 @default.
- W1982458683 hasConcept C17757408 @default.
- W1982458683 hasConcept C20580545 @default.
- W1982458683 hasConcept C2779036427 @default.
- W1982458683 hasConcept C2779105492 @default.
- W1982458683 hasConcept C2779243652 @default.
- W1982458683 hasConcept C2779672106 @default.
- W1982458683 hasConcept C29906990 @default.
- W1982458683 hasConcept C36823959 @default.
- W1982458683 hasConcept C49105822 @default.
- W1982458683 hasConcept C501734568 @default.
- W1982458683 hasConcept C54355233 @default.
- W1982458683 hasConcept C55493867 @default.
- W1982458683 hasConcept C58301748 @default.
- W1982458683 hasConcept C75563809 @default.
- W1982458683 hasConcept C86803240 @default.
- W1982458683 hasConcept C96777560 @default.
- W1982458683 hasConceptScore W1982458683C104317684 @default.
- W1982458683 hasConceptScore W1982458683C128319531 @default.
- W1982458683 hasConceptScore W1982458683C153911025 @default.
- W1982458683 hasConceptScore W1982458683C168007829 @default.
- W1982458683 hasConceptScore W1982458683C17757408 @default.
- W1982458683 hasConceptScore W1982458683C20580545 @default.
- W1982458683 hasConceptScore W1982458683C2779036427 @default.
- W1982458683 hasConceptScore W1982458683C2779105492 @default.
- W1982458683 hasConceptScore W1982458683C2779243652 @default.
- W1982458683 hasConceptScore W1982458683C2779672106 @default.
- W1982458683 hasConceptScore W1982458683C29906990 @default.
- W1982458683 hasConceptScore W1982458683C36823959 @default.
- W1982458683 hasConceptScore W1982458683C49105822 @default.
- W1982458683 hasConceptScore W1982458683C501734568 @default.
- W1982458683 hasConceptScore W1982458683C54355233 @default.
- W1982458683 hasConceptScore W1982458683C55493867 @default.
- W1982458683 hasConceptScore W1982458683C58301748 @default.
- W1982458683 hasConceptScore W1982458683C75563809 @default.
- W1982458683 hasConceptScore W1982458683C86803240 @default.
- W1982458683 hasConceptScore W1982458683C96777560 @default.
- W1982458683 hasIssue "4" @default.
- W1982458683 hasLocation W19824586831 @default.
- W1982458683 hasLocation W19824586832 @default.
- W1982458683 hasOpenAccess W1982458683 @default.
- W1982458683 hasPrimaryLocation W19824586831 @default.
- W1982458683 hasRelatedWork W1982458683 @default.
- W1982458683 hasRelatedWork W2042473575 @default.
- W1982458683 hasRelatedWork W2049560478 @default.
- W1982458683 hasRelatedWork W2054105806 @default.
- W1982458683 hasRelatedWork W2075503019 @default.
- W1982458683 hasRelatedWork W2128902294 @default.
- W1982458683 hasRelatedWork W2168320377 @default.
- W1982458683 hasRelatedWork W2410204156 @default.
- W1982458683 hasRelatedWork W4235910810 @default.
- W1982458683 hasRelatedWork W59781516 @default.
- W1982458683 hasVolume "85" @default.
- W1982458683 isParatext "false" @default.
- W1982458683 isRetracted "false" @default.
- W1982458683 magId "1982458683" @default.
- W1982458683 workType "article" @default.