FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2015648114> ?p ?o ?g. }

• W2015648114 endingPage "286" @default.
• W2015648114 startingPage "280" @default.
• W2015648114 abstract "The identities of a cystic fibrosis (CF) patient's CFTR mutations can influence therapeutic strategies, but because >800 CFTR mutations exist, cost-effective, comprehensive screening requires a multistage approach. Single-strand conformation polymorphism and heteroduplex analysis (SSCP/HA) can be an important part of mutation detection, but must be calibrated within each laboratory. The sensitivity of a combined commercial-SSCP/HA approach to genotyping in a large, ethnically diverse US center CF population has not been established.We screened all 27 CFTR exons in 10 human participants who had an unequivocal CF diagnosis including a positive sweat chloride test and at least 1 unknown allele after commercial testing for the 70 most common mutations by SSCP/HA. These participants were compared with 7 participants who had negative sweat tests but at least 1 other CF-like symptom meriting complete genotyping.For the 10 CF participants, we detected 11 of 16 unknown alleles (69%) and all 4 of the known alleles (100%), for an overall rate of 75% inpatients not fully genotyped by conventional 70 mutation screen. For 7 participants with negative sweat tests, we confirmed 1 identified mutation in 14 alleles and detected 3 additional mutations. Mutations detected in both groups included 7 missense mutations (S13F, P67L, G98R, S492F, G970D, L1093P, N1303K) and 9 deletion, frameshift, nonsense or splicing mutations (R75X, G542X, DeltaF508, 451-458Delta8 bp, 5T, 663DeltaT, exon 13 frameshift, 1261+1G-->A and 3272-26A-->G). Three of these mutations were novel (G970D, L1093P, and 451-458Delta8 bp(1)). Thirteen other changes were detected, including the novel changes 1812-3 ins T, 4096-278 ins T, 4096-265 ins TG, and 4096-180 T-->G.When combined with the 70 mutation Genzyme test, SSCP/HA analysis allows for detection of >95% of the mutations in an ethnically heterogeneous CF center population. We discuss 5 possible explanations that could account for the few remaining undetected mutations." @default.
• W2015648114 created "2016-06-24" @default.
• W2015648114 creator A5022053553 @default.
• W2015648114 creator A5022593117 @default.
• W2015648114 creator A5030966910 @default.
• W2015648114 creator A5055407566 @default.
• W2015648114 date "2001-02-01" @default.
• W2015648114 modified "2023-10-06" @default.
• W2015648114 title "Comprehensive Mutation Screening in a Cystic Fibrosis Center" @default.
• W2015648114 cites W1969697265 @default.
• W2015648114 cites W1975971473 @default.
• W2015648114 cites W1982953310 @default.
• W2015648114 cites W198306871 @default.
• W2015648114 cites W2016954577 @default.
• W2015648114 cites W2019876578 @default.
• W2015648114 cites W2029299728 @default.
• W2015648114 cites W2032258216 @default.
• W2015648114 cites W2034685372 @default.
• W2015648114 cites W2037268137 @default.
• W2015648114 cites W2039599894 @default.
• W2015648114 cites W2052588826 @default.
• W2015648114 cites W2058345970 @default.
• W2015648114 cites W2069289373 @default.
• W2015648114 cites W2071226544 @default.
• W2015648114 cites W2072335033 @default.
• W2015648114 cites W2079234445 @default.
• W2015648114 cites W2125391335 @default.
• W2015648114 cites W2125650759 @default.
• W2015648114 cites W2132775040 @default.
• W2015648114 cites W2135820955 @default.
• W2015648114 cites W2189222387 @default.
• W2015648114 cites W2336764462 @default.
• W2015648114 cites W9210744 @default.
• W2015648114 doi "https://doi.org/10.1542/peds.107.2.280" @default.
• W2015648114 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11158459" @default.
• W2015648114 hasPublicationYear "2001" @default.
• W2015648114 type Work @default.
• W2015648114 sameAs 2015648114 @default.
• W2015648114 citedByCount "27" @default.
• W2015648114 countsByYear W20156481142015 @default.
• W2015648114 countsByYear W20156481142016 @default.
• W2015648114 countsByYear W20156481142017 @default.
• W2015648114 countsByYear W20156481142020 @default.
• W2015648114 crossrefType "journal-article" @default.
• W2015648114 hasAuthorship W2015648114A5022053553 @default.
• W2015648114 hasAuthorship W2015648114A5022593117 @default.
• W2015648114 hasAuthorship W2015648114A5030966910 @default.
• W2015648114 hasAuthorship W2015648114A5055407566 @default.
• W2015648114 hasConcept C104317684 @default.
• W2015648114 hasConcept C129219603 @default.
• W2015648114 hasConcept C134494468 @default.
• W2015648114 hasConcept C135763542 @default.
• W2015648114 hasConcept C153911025 @default.
• W2015648114 hasConcept C180754005 @default.
• W2015648114 hasConcept C2776938444 @default.
• W2015648114 hasConcept C29906990 @default.
• W2015648114 hasConcept C31467283 @default.
• W2015648114 hasConcept C36823959 @default.
• W2015648114 hasConcept C501734568 @default.
• W2015648114 hasConcept C54355233 @default.
• W2015648114 hasConcept C71924100 @default.
• W2015648114 hasConcept C75563809 @default.
• W2015648114 hasConcept C86803240 @default.
• W2015648114 hasConcept C96777560 @default.
• W2015648114 hasConceptScore W2015648114C104317684 @default.
• W2015648114 hasConceptScore W2015648114C129219603 @default.
• W2015648114 hasConceptScore W2015648114C134494468 @default.
• W2015648114 hasConceptScore W2015648114C135763542 @default.
• W2015648114 hasConceptScore W2015648114C153911025 @default.
• W2015648114 hasConceptScore W2015648114C180754005 @default.
• W2015648114 hasConceptScore W2015648114C2776938444 @default.
• W2015648114 hasConceptScore W2015648114C29906990 @default.
• W2015648114 hasConceptScore W2015648114C31467283 @default.
• W2015648114 hasConceptScore W2015648114C36823959 @default.
• W2015648114 hasConceptScore W2015648114C501734568 @default.
• W2015648114 hasConceptScore W2015648114C54355233 @default.
• W2015648114 hasConceptScore W2015648114C71924100 @default.
• W2015648114 hasConceptScore W2015648114C75563809 @default.
• W2015648114 hasConceptScore W2015648114C86803240 @default.
• W2015648114 hasConceptScore W2015648114C96777560 @default.
• W2015648114 hasIssue "2" @default.
• W2015648114 hasLocation W20156481141 @default.
• W2015648114 hasLocation W20156481142 @default.
• W2015648114 hasOpenAccess W2015648114 @default.
• W2015648114 hasPrimaryLocation W20156481141 @default.
• W2015648114 hasRelatedWork W1573701516 @default.
• W2015648114 hasRelatedWork W1967823468 @default.
• W2015648114 hasRelatedWork W1984847496 @default.
• W2015648114 hasRelatedWork W2092849118 @default.
• W2015648114 hasRelatedWork W2094075600 @default.
• W2015648114 hasRelatedWork W2100847686 @default.
• W2015648114 hasRelatedWork W2410087978 @default.
• W2015648114 hasRelatedWork W2415679523 @default.
• W2015648114 hasRelatedWork W2089845965 @default.
• W2015648114 hasRelatedWork W3112847293 @default.
• W2015648114 hasVolume "107" @default.
• W2015648114 isParatext "false" @default.
• W2015648114 isRetracted "false" @default.

• next