Matches in SemOpenAlex for { <https://semopenalex.org/work/W2099249912> ?p ?o ?g. }
- W2099249912 endingPage "885" @default.
- W2099249912 startingPage "879" @default.
- W2099249912 abstract "Hypertrophic cardiomyopathy (HCM) is a heterogeneous autosomal dominant cardiac disorder with a prevalence of 1 in 500. Over 450 different pathogenic mutations in at least 16 genes have been identified so far. The large allelic and genetic heterogeneity of HCM requires high-throughput, rapid, and affordable mutation detection technologies to efficiently integrate molecular screening into clinical practice. We developed a custom DNA resequencing array that contains both strands of all coding exons (160), splice-site junctions, and 5′UTR regions of 12 genes that have been clearly implicated in HCM (MYH7, MYBPC3, TNNT2, TPM1, TNNI3, MYL3, MYL2, CSRP3, PLN, ACTC, TNNC1, and PRKAG2). We analyzed a first series of 38 unrelated patients with HCM (17 familial, 21 sporadic). A total of 953,306 bp across the 38 patients were sequenced with a mean nucleotide call rate of 96.92% (range: 93–99.9%). Pathogenic mutations (single nucleotide substitutions) in MYH7, MYBPC3, TNNI3, and MYL3 (six known and six novel) were identified in 60% (10/17) of familial HCM and 10% of sporadic cases (2/21). The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification. Hum Mutat 29(6), 879–885, 2008. © 2008 Wiley-Liss, Inc." @default.
- W2099249912 created "2016-06-24" @default.
- W2099249912 creator A5002175245 @default.
- W2099249912 creator A5017357381 @default.
- W2099249912 creator A5027866836 @default.
- W2099249912 creator A5033367602 @default.
- W2099249912 creator A5050577471 @default.
- W2099249912 creator A5054308820 @default.
- W2099249912 creator A5060176022 @default.
- W2099249912 creator A5060773106 @default.
- W2099249912 creator A5067045268 @default.
- W2099249912 creator A5070271306 @default.
- W2099249912 creator A5077027470 @default.
- W2099249912 creator A5085573148 @default.
- W2099249912 creator A5085581810 @default.
- W2099249912 creator A5087245703 @default.
- W2099249912 date "2008-06-01" @default.
- W2099249912 modified "2023-09-25" @default.
- W2099249912 title "A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy" @default.
- W2099249912 cites W1958158305 @default.
- W2099249912 cites W1969114994 @default.
- W2099249912 cites W1970427756 @default.
- W2099249912 cites W2010815558 @default.
- W2099249912 cites W2012636308 @default.
- W2099249912 cites W2012739369 @default.
- W2099249912 cites W2034270708 @default.
- W2099249912 cites W2034904174 @default.
- W2099249912 cites W2044728287 @default.
- W2099249912 cites W2045394907 @default.
- W2099249912 cites W2050844576 @default.
- W2099249912 cites W2061790077 @default.
- W2099249912 cites W2070320179 @default.
- W2099249912 cites W2080159521 @default.
- W2099249912 cites W2100651399 @default.
- W2099249912 cites W2102419435 @default.
- W2099249912 cites W2107724201 @default.
- W2099249912 cites W2112556490 @default.
- W2099249912 cites W2113437018 @default.
- W2099249912 cites W2117379242 @default.
- W2099249912 cites W2122866593 @default.
- W2099249912 cites W2125330691 @default.
- W2099249912 cites W2127423627 @default.
- W2099249912 cites W2127817270 @default.
- W2099249912 cites W2136936857 @default.
- W2099249912 cites W2140752009 @default.
- W2099249912 cites W2144284750 @default.
- W2099249912 cites W2144914570 @default.
- W2099249912 cites W2149422196 @default.
- W2099249912 cites W2155135042 @default.
- W2099249912 cites W2161501475 @default.
- W2099249912 cites W2163398370 @default.
- W2099249912 cites W2164158351 @default.
- W2099249912 cites W2320970146 @default.
- W2099249912 cites W4240337538 @default.
- W2099249912 cites W4252262486 @default.
- W2099249912 doi "https://doi.org/10.1002/humu.20749" @default.
- W2099249912 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18409188" @default.
- W2099249912 hasPublicationYear "2008" @default.
- W2099249912 type Work @default.
- W2099249912 sameAs 2099249912 @default.
- W2099249912 citedByCount "76" @default.
- W2099249912 countsByYear W20992499122012 @default.
- W2099249912 countsByYear W20992499122013 @default.
- W2099249912 countsByYear W20992499122014 @default.
- W2099249912 countsByYear W20992499122015 @default.
- W2099249912 countsByYear W20992499122016 @default.
- W2099249912 countsByYear W20992499122017 @default.
- W2099249912 countsByYear W20992499122018 @default.
- W2099249912 countsByYear W20992499122020 @default.
- W2099249912 countsByYear W20992499122021 @default.
- W2099249912 countsByYear W20992499122022 @default.
- W2099249912 countsByYear W20992499122023 @default.
- W2099249912 crossrefType "journal-article" @default.
- W2099249912 hasAuthorship W2099249912A5002175245 @default.
- W2099249912 hasAuthorship W2099249912A5017357381 @default.
- W2099249912 hasAuthorship W2099249912A5027866836 @default.
- W2099249912 hasAuthorship W2099249912A5033367602 @default.
- W2099249912 hasAuthorship W2099249912A5050577471 @default.
- W2099249912 hasAuthorship W2099249912A5054308820 @default.
- W2099249912 hasAuthorship W2099249912A5060176022 @default.
- W2099249912 hasAuthorship W2099249912A5060773106 @default.
- W2099249912 hasAuthorship W2099249912A5067045268 @default.
- W2099249912 hasAuthorship W2099249912A5070271306 @default.
- W2099249912 hasAuthorship W2099249912A5077027470 @default.
- W2099249912 hasAuthorship W2099249912A5085573148 @default.
- W2099249912 hasAuthorship W2099249912A5085581810 @default.
- W2099249912 hasAuthorship W2099249912A5087245703 @default.
- W2099249912 hasBestOaLocation W20992499121 @default.
- W2099249912 hasConcept C104317684 @default.
- W2099249912 hasConcept C2780185194 @default.
- W2099249912 hasConcept C2780673598 @default.
- W2099249912 hasConcept C501734568 @default.
- W2099249912 hasConcept C53345823 @default.
- W2099249912 hasConcept C54355233 @default.
- W2099249912 hasConcept C55493867 @default.
- W2099249912 hasConcept C74581901 @default.
- W2099249912 hasConcept C86803240 @default.
- W2099249912 hasConceptScore W2099249912C104317684 @default.