FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2336764462> ?p ?o ?g. }

• W2336764462 endingPage "980" @default.
• W2336764462 startingPage "974" @default.
• W2336764462 abstract "Many patients with chronic pulmonary disease similar to that seen in cystic fibrosis have normal (or nondiagnostic) sweat chloride values. It has been difficult to make the diagnosis of cystic fibrosis in these patients because no associated mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been identified.We evaluated 23 patients with pulmonary disease characteristic of cystic fibrosis but with sweat chloride concentrations in the normal range. Mutations in the CFTR gene were sought by direct sequencing of polymerase chain reaction-amplified nasal epithelial messenger RNA and by testing the functioning of affected epithelium.A cytidine phosphate guanosine dinucleotide C-to-T point mutation in intron 19 of the CFTR gene, termed 3849 + 10 kb C to T, was identified in 13 patients from eight unrelated families. This mutation was found in patients from three different ethnic groups with three different extended haplotypes. The mutation leads to the creation of a partially active splice site in intron 19 and to the insertion into most CFTR transcripts of a new 84-base-pair exon, containing an in-frame stop codon, between exons 19 and 20. Normally spliced transcripts were also detected at a level approximately 8 percent of that found in normal subjects. This mutation is associated with abnormal nasal epithelial and sweat acinar epithelial function.We have identified a point mutation in intron 19 of CFTR and abnormal epithelial function in patients who have cystic fibrosis-like lung disease but normal sweat chloride values. The identification of this mutation indicates that this syndrome is a form of cystic fibrosis. Screening for the mutation should prove diagnostically useful in this population of patients." @default.
• W2336764462 created "2016-06-24" @default.
• W2336764462 creator A5000992961 @default.
• W2336764462 creator A5001166056 @default.
• W2336764462 creator A5029086420 @default.
• W2336764462 creator A5030948183 @default.
• W2336764462 creator A5031275329 @default.
• W2336764462 creator A5034275966 @default.
• W2336764462 creator A5043096207 @default.
• W2336764462 creator A5051091681 @default.
• W2336764462 creator A5055003522 @default.
• W2336764462 creator A5055982974 @default.
• W2336764462 creator A5057422896 @default.
• W2336764462 creator A5084381567 @default.
• W2336764462 date "1994-10-13" @default.
• W2336764462 modified "2023-10-18" @default.
• W2336764462 title "A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations" @default.
• W2336764462 cites W1547921699 @default.
• W2336764462 cites W1946951765 @default.
• W2336764462 cites W1970014665 @default.
• W2336764462 cites W1976376267 @default.
• W2336764462 cites W1983319519 @default.
• W2336764462 cites W1998130586 @default.
• W2336764462 cites W2012911917 @default.
• W2336764462 cites W2020389857 @default.
• W2336764462 cites W2028171116 @default.
• W2336764462 cites W2033909465 @default.
• W2336764462 cites W2039599894 @default.
• W2336764462 cites W2044594872 @default.
• W2336764462 cites W2050573110 @default.
• W2336764462 cites W2060333964 @default.
• W2336764462 cites W2080824017 @default.
• W2336764462 cites W2090146012 @default.
• W2336764462 cites W2094020724 @default.
• W2336764462 cites W2125391335 @default.
• W2336764462 cites W2126101868 @default.
• W2336764462 cites W2144248619 @default.
• W2336764462 cites W2166060845 @default.
• W2336764462 cites W2171326656 @default.
• W2336764462 cites W2261603928 @default.
• W2336764462 cites W2320394900 @default.
• W2336764462 cites W2337925307 @default.
• W2336764462 cites W2339425856 @default.
• W2336764462 cites W2410997911 @default.
• W2336764462 cites W2418650052 @default.
• W2336764462 cites W4232531177 @default.
• W2336764462 cites W4241531133 @default.
• W2336764462 doi "https://doi.org/10.1056/nejm199410133311503" @default.
• W2336764462 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7521937" @default.
• W2336764462 hasPublicationYear "1994" @default.
• W2336764462 type Work @default.
• W2336764462 sameAs 2336764462 @default.
• W2336764462 citedByCount "413" @default.
• W2336764462 countsByYear W23367644622012 @default.
• W2336764462 countsByYear W23367644622013 @default.
• W2336764462 countsByYear W23367644622014 @default.
• W2336764462 countsByYear W23367644622015 @default.
• W2336764462 countsByYear W23367644622016 @default.
• W2336764462 countsByYear W23367644622017 @default.
• W2336764462 countsByYear W23367644622018 @default.
• W2336764462 countsByYear W23367644622019 @default.
• W2336764462 countsByYear W23367644622020 @default.
• W2336764462 countsByYear W23367644622021 @default.
• W2336764462 countsByYear W23367644622022 @default.
• W2336764462 countsByYear W23367644622023 @default.
• W2336764462 crossrefType "journal-article" @default.
• W2336764462 hasAuthorship W2336764462A5000992961 @default.
• W2336764462 hasAuthorship W2336764462A5001166056 @default.
• W2336764462 hasAuthorship W2336764462A5029086420 @default.
• W2336764462 hasAuthorship W2336764462A5030948183 @default.
• W2336764462 hasAuthorship W2336764462A5031275329 @default.
• W2336764462 hasAuthorship W2336764462A5034275966 @default.
• W2336764462 hasAuthorship W2336764462A5043096207 @default.
• W2336764462 hasAuthorship W2336764462A5051091681 @default.
• W2336764462 hasAuthorship W2336764462A5055003522 @default.
• W2336764462 hasAuthorship W2336764462A5055982974 @default.
• W2336764462 hasAuthorship W2336764462A5057422896 @default.
• W2336764462 hasAuthorship W2336764462A5084381567 @default.
• W2336764462 hasBestOaLocation W23367644621 @default.
• W2336764462 hasConcept C104317684 @default.
• W2336764462 hasConcept C126322002 @default.
• W2336764462 hasConcept C142724271 @default.
• W2336764462 hasConcept C153911025 @default.
• W2336764462 hasConcept C176944494 @default.
• W2336764462 hasConcept C2776938444 @default.
• W2336764462 hasConcept C2778428886 @default.
• W2336764462 hasConcept C2779879311 @default.
• W2336764462 hasConcept C36823959 @default.
• W2336764462 hasConcept C501734568 @default.
• W2336764462 hasConcept C54355233 @default.
• W2336764462 hasConcept C71924100 @default.
• W2336764462 hasConcept C86803240 @default.
• W2336764462 hasConceptScore W2336764462C104317684 @default.
• W2336764462 hasConceptScore W2336764462C126322002 @default.
• W2336764462 hasConceptScore W2336764462C142724271 @default.
• W2336764462 hasConceptScore W2336764462C153911025 @default.
• W2336764462 hasConceptScore W2336764462C176944494 @default.
• W2336764462 hasConceptScore W2336764462C2776938444 @default.

• next