FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2009551211> ?p ?o ?g. }

• W2009551211 endingPage "490" @default.
• W2009551211 startingPage "481" @default.
• W2009551211 abstract "Fanconi anemia (FA) is a rare autosomal recessive disorder of hematopoiesis, with at least 11 complementation groups. FANCA, a gene for group A, accounts for the majority of FA patients. Previous studies of FANCA mutations revealed high allelic heterogeneity, frequent occurrence of large deletions, and interpopulation differences. However, systematic mutational analysis, including gene dosage assay to detect large deletions, has not been documented for Asian populations. A newly developed TaqMan™ quantitative PCR-based gene dosage assay, combined with sequencing of exons and cDNA fragments, allowed for detection of 48 mutant alleles of FANCA in 27 (77%) of 35 unrelated Japanese FA families with no detectable mutations in FANCC or FANCG. We identified 29 different mutations (21 nucleotide substitutions or small deletions/insertions and eight large deletions), at least 20 of which were novel. The FANCA mutational spectrum of the Japanese was different from that of other ethnic groups so far studied. This is the largest scale of mutation analysis of FANCA in the Japanese population. Characterization of these mutations provided new information regarding the mutagenesis mechanisms and structure–function relationship of FANCA. Specifically, our data suggest that diverse mechanisms including nonhomologous recombination as well as Alu-mediated homologous recombination are involved in the generation of large deletions in FANCA. Hum Mutat 24:481–490, 2004. © 2004 Wiley-Liss, Inc." @default.
• W2009551211 created "2016-06-24" @default.
• W2009551211 creator A5003854079 @default.
• W2009551211 creator A5030021970 @default.
• W2009551211 creator A5036430010 @default.
• W2009551211 creator A5042290434 @default.
• W2009551211 creator A5066456848 @default.
• W2009551211 creator A5067229916 @default.
• W2009551211 date "2004-12-01" @default.
• W2009551211 modified "2023-10-11" @default.
• W2009551211 title "Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population" @default.
• W2009551211 cites W1495571943 @default.
• W2009551211 cites W1507694958 @default.
• W2009551211 cites W1976314662 @default.
• W2009551211 cites W1977916286 @default.
• W2009551211 cites W1991841649 @default.
• W2009551211 cites W1992115026 @default.
• W2009551211 cites W1992567175 @default.
• W2009551211 cites W1993142423 @default.
• W2009551211 cites W1997104526 @default.
• W2009551211 cites W2000140041 @default.
• W2009551211 cites W2005949963 @default.
• W2009551211 cites W2021136272 @default.
• W2009551211 cites W2022682937 @default.
• W2009551211 cites W2034668175 @default.
• W2009551211 cites W2036503229 @default.
• W2009551211 cites W2037350726 @default.
• W2009551211 cites W2038936226 @default.
• W2009551211 cites W2044329004 @default.
• W2009551211 cites W2045590949 @default.
• W2009551211 cites W2048947202 @default.
• W2009551211 cites W2063318299 @default.
• W2009551211 cites W2065417936 @default.
• W2009551211 cites W2079403837 @default.
• W2009551211 cites W2080346424 @default.
• W2009551211 cites W2084259798 @default.
• W2009551211 cites W2084310601 @default.
• W2009551211 cites W2087036937 @default.
• W2009551211 cites W2088820141 @default.
• W2009551211 cites W2089945439 @default.
• W2009551211 cites W2092113847 @default.
• W2009551211 cites W2092950132 @default.
• W2009551211 cites W2093398724 @default.
• W2009551211 cites W2097911650 @default.
• W2009551211 cites W2098697121 @default.
• W2009551211 cites W2101161126 @default.
• W2009551211 cites W2110542977 @default.
• W2009551211 cites W2127531050 @default.
• W2009551211 cites W2129682060 @default.
• W2009551211 cites W2153025234 @default.
• W2009551211 cites W2154489449 @default.
• W2009551211 cites W2159410169 @default.
• W2009551211 cites W2161854614 @default.
• W2009551211 cites W2163599181 @default.
• W2009551211 cites W2252370360 @default.
• W2009551211 cites W4302183079 @default.
• W2009551211 doi "https://doi.org/10.1002/humu.20099" @default.
• W2009551211 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15523645" @default.
• W2009551211 hasPublicationYear "2004" @default.
• W2009551211 type Work @default.
• W2009551211 sameAs 2009551211 @default.
• W2009551211 citedByCount "40" @default.
• W2009551211 countsByYear W20095512112012 @default.
• W2009551211 countsByYear W20095512112013 @default.
• W2009551211 countsByYear W20095512112014 @default.
• W2009551211 countsByYear W20095512112015 @default.
• W2009551211 countsByYear W20095512112016 @default.
• W2009551211 countsByYear W20095512112017 @default.
• W2009551211 countsByYear W20095512112018 @default.
• W2009551211 countsByYear W20095512112019 @default.
• W2009551211 countsByYear W20095512112020 @default.
• W2009551211 countsByYear W20095512112021 @default.
• W2009551211 countsByYear W20095512112022 @default.
• W2009551211 crossrefType "journal-article" @default.
• W2009551211 hasAuthorship W2009551211A5003854079 @default.
• W2009551211 hasAuthorship W2009551211A5030021970 @default.
• W2009551211 hasAuthorship W2009551211A5036430010 @default.
• W2009551211 hasAuthorship W2009551211A5042290434 @default.
• W2009551211 hasAuthorship W2009551211A5066456848 @default.
• W2009551211 hasAuthorship W2009551211A5067229916 @default.
• W2009551211 hasBestOaLocation W20095512111 @default.
• W2009551211 hasConcept C104317684 @default.
• W2009551211 hasConcept C134935766 @default.
• W2009551211 hasConcept C143065580 @default.
• W2009551211 hasConcept C144024400 @default.
• W2009551211 hasConcept C149923435 @default.
• W2009551211 hasConcept C153911025 @default.
• W2009551211 hasConcept C188082640 @default.
• W2009551211 hasConcept C2776222947 @default.
• W2009551211 hasConcept C2778124228 @default.
• W2009551211 hasConcept C2778993383 @default.
• W2009551211 hasConcept C2779020398 @default.
• W2009551211 hasConcept C2779548794 @default.
• W2009551211 hasConcept C2779629538 @default.
• W2009551211 hasConcept C2908647359 @default.
• W2009551211 hasConcept C501734568 @default.
• W2009551211 hasConcept C54355233 @default.
• W2009551211 hasConcept C86803240 @default.

• next