FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2111271185> ?p ?o ?g. }

• W2111271185 endingPage "491" @default.
• W2111271185 startingPage "488" @default.
• W2111271185 abstract "Mutations in the FBN1 gene, encoding fibrillin-1, result in Marfan syndrome (MFS). According to previous reports, the mutations in FBN1 share certain characteristics in each family with variable penetrance and overlapping symptoms, even in the same genotype. In the present study, we report six novel mutations and evaluate the clinical significance of these nucleotide changes.To screen for nucleotide changes in all 65 exons of the FBN1 gene in 38 unrelated Korean patients, we performed polymerase chain reaction, single-strand conformational polymorphism (SSCP) and sequencing for the shift of the band in SSCP.We identified six mutations: a 2253 del 7 b.p., N1043S, C1254S, L1421F, C1895R and S2662P.These results suggest that many different mutations are responsible for MFS in the Korean population." @default.
• W2111271185 created "2016-06-24" @default.
• W2111271185 creator A5018430165 @default.
• W2111271185 creator A5030006412 @default.
• W2111271185 creator A5039350601 @default.
• W2111271185 creator A5048230419 @default.
• W2111271185 creator A5050237203 @default.
• W2111271185 creator A5083941531 @default.
• W2111271185 creator A5089160532 @default.
• W2111271185 date "2000-10-29" @default.
• W2111271185 modified "2023-10-15" @default.
• W2111271185 title "Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome" @default.
• W2111271185 cites W1984175120 @default.
• W2111271185 cites W1984292795 @default.
• W2111271185 cites W1990797724 @default.
• W2111271185 cites W2016085918 @default.
• W2111271185 cites W2033652547 @default.
• W2111271185 cites W2037268137 @default.
• W2111271185 cites W2065142552 @default.
• W2111271185 cites W2067945038 @default.
• W2111271185 cites W2078227152 @default.
• W2111271185 cites W2095433480 @default.
• W2111271185 cites W2118030210 @default.
• W2111271185 cites W2123259277 @default.
• W2111271185 cites W2129241688 @default.
• W2111271185 cites W2153114074 @default.
• W2111271185 cites W2170121771 @default.
• W2111271185 cites W4235224941 @default.
• W2111271185 doi "https://doi.org/10.1046/j.1442-200x.2000.01268.x" @default.
• W2111271185 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11059536" @default.
• W2111271185 hasPublicationYear "2000" @default.
• W2111271185 type Work @default.
• W2111271185 sameAs 2111271185 @default.
• W2111271185 citedByCount "9" @default.
• W2111271185 countsByYear W21112711852012 @default.
• W2111271185 countsByYear W21112711852014 @default.
• W2111271185 countsByYear W21112711852016 @default.
• W2111271185 countsByYear W21112711852022 @default.
• W2111271185 crossrefType "journal-article" @default.
• W2111271185 hasAuthorship W2111271185A5018430165 @default.
• W2111271185 hasAuthorship W2111271185A5030006412 @default.
• W2111271185 hasAuthorship W2111271185A5039350601 @default.
• W2111271185 hasAuthorship W2111271185A5048230419 @default.
• W2111271185 hasAuthorship W2111271185A5050237203 @default.
• W2111271185 hasAuthorship W2111271185A5083941531 @default.
• W2111271185 hasAuthorship W2111271185A5089160532 @default.
• W2111271185 hasConcept C104317684 @default.
• W2111271185 hasConcept C126322002 @default.
• W2111271185 hasConcept C127716648 @default.
• W2111271185 hasConcept C129219603 @default.
• W2111271185 hasConcept C135763542 @default.
• W2111271185 hasConcept C149737253 @default.
• W2111271185 hasConcept C153209595 @default.
• W2111271185 hasConcept C153911025 @default.
• W2111271185 hasConcept C200544954 @default.
• W2111271185 hasConcept C2780561598 @default.
• W2111271185 hasConcept C36823959 @default.
• W2111271185 hasConcept C49105822 @default.
• W2111271185 hasConcept C501734568 @default.
• W2111271185 hasConcept C54355233 @default.
• W2111271185 hasConcept C71924100 @default.
• W2111271185 hasConcept C76334062 @default.
• W2111271185 hasConcept C86803240 @default.
• W2111271185 hasConceptScore W2111271185C104317684 @default.
• W2111271185 hasConceptScore W2111271185C126322002 @default.
• W2111271185 hasConceptScore W2111271185C127716648 @default.
• W2111271185 hasConceptScore W2111271185C129219603 @default.
• W2111271185 hasConceptScore W2111271185C135763542 @default.
• W2111271185 hasConceptScore W2111271185C149737253 @default.
• W2111271185 hasConceptScore W2111271185C153209595 @default.
• W2111271185 hasConceptScore W2111271185C153911025 @default.
• W2111271185 hasConceptScore W2111271185C200544954 @default.
• W2111271185 hasConceptScore W2111271185C2780561598 @default.
• W2111271185 hasConceptScore W2111271185C36823959 @default.
• W2111271185 hasConceptScore W2111271185C49105822 @default.
• W2111271185 hasConceptScore W2111271185C501734568 @default.
• W2111271185 hasConceptScore W2111271185C54355233 @default.
• W2111271185 hasConceptScore W2111271185C71924100 @default.
• W2111271185 hasConceptScore W2111271185C76334062 @default.
• W2111271185 hasConceptScore W2111271185C86803240 @default.
• W2111271185 hasIssue "5" @default.
• W2111271185 hasLocation W21112711851 @default.
• W2111271185 hasLocation W21112711852 @default.
• W2111271185 hasOpenAccess W2111271185 @default.
• W2111271185 hasPrimaryLocation W21112711851 @default.
• W2111271185 hasRelatedWork W1995153757 @default.
• W2111271185 hasRelatedWork W2037939768 @default.
• W2111271185 hasRelatedWork W2077424309 @default.
• W2111271185 hasRelatedWork W2266919738 @default.
• W2111271185 hasRelatedWork W2474968367 @default.
• W2111271185 hasRelatedWork W2594977192 @default.
• W2111271185 hasRelatedWork W2758881551 @default.
• W2111271185 hasRelatedWork W2908649410 @default.
• W2111271185 hasRelatedWork W4251585539 @default.
• W2111271185 hasRelatedWork W44605724 @default.
• W2111271185 hasVolume "42" @default.
• W2111271185 isParatext "false" @default.
• W2111271185 isRetracted "false" @default.

• next