FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2165412148> ?p ?o ?g. }

• W2165412148 endingPage "931" @default.
• W2165412148 startingPage "929" @default.
• W2165412148 abstract "In this issue, Castaldo et al. (1) describe the use of denaturing gradient gel electrophoresis to scan the CFTR gene in cystic fibrosis (CF) patients from Southern Italy who were negative for the common CF mutations. As expected, rare mutations were found, five of which were useful in population screening. These findings are particularly important for laboratories in Italy and in areas with families of Italian descent.Advanced molecular techniques provide a double-edged sword because they often detect sequence changes whose deleterious natures are by no means established. In the CFTR gene, such variants may cause classic CF, elicit atypical phenotypes with similarities to CF, or have no consequence to health.Among recent letters in the New England Journal of Medicine on mild phenotypic variants of CF (2)(3)(4), one suggested that “the diagnosis of cystic fibrosis is too nebulous to preserve in clinical practice and that perhaps, as is the case with Cushing’s disease and syndrome, we need to have both a cystic fibrosis ‘disease’. . . and a cystic fibrosis ‘syndrome’ (which would include the pancreatic manifestations, congenital bilateral absence of the vas deferens, or lesser pulmonary manifestations)” (3). As improved mutation detection technologies enter the clinical laboratory and identify rare CFTR mutations, laboratorians and clinicians must be cognizant of the changing nature of genotype-phenotype associations.The severity of the pancreatic and hepatic features of CF is highly variable. The gastrointestinal presentations endured by CF patients take many forms (5). The majority of patients (85–90%) experience pancreatic exocrine insufficiency. Those who retain pancreatic exocrine function (10–15%) typically carry at least one of the CFTR gene mutations that have been associated with residual function. Other CF patients have impaired endocrine insulin production associated with diabetes (10–15% of patients) or liver dysfunction (5), although no specific CFTR …" @default.
• W2165412148 created "2016-06-24" @default.
• W2165412148 creator A5051091681 @default.
• W2165412148 creator A5084381567 @default.
• W2165412148 date "1999-07-01" @default.
• W2165412148 modified "2023-09-27" @default.
• W2165412148 title "Cystic Fibrosis Syndrome: A New Paradigm for Inherited Disorders and Implications for Molecular Diagnostics" @default.
• W2165412148 cites W1862919875 @default.
• W2165412148 cites W1936565108 @default.
• W2165412148 cites W1992831558 @default.
• W2165412148 cites W2016190390 @default.
• W2165412148 cites W2019958898 @default.
• W2165412148 cites W2021739826 @default.
• W2165412148 cites W2028236275 @default.
• W2165412148 cites W2034685372 @default.
• W2165412148 cites W2082968284 @default.
• W2165412148 cites W2084085906 @default.
• W2165412148 cites W2116365881 @default.
• W2165412148 cites W2122706765 @default.
• W2165412148 cites W2126609769 @default.
• W2165412148 cites W2145274467 @default.
• W2165412148 cites W2159688453 @default.
• W2165412148 cites W2312999996 @default.
• W2165412148 cites W2327703579 @default.
• W2165412148 cites W2336749545 @default.
• W2165412148 cites W2336764462 @default.
• W2165412148 cites W2418728833 @default.
• W2165412148 cites W4242005753 @default.
• W2165412148 cites W4319308443 @default.
• W2165412148 doi "https://doi.org/10.1093/clinchem/45.7.929" @default.
• W2165412148 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10388465" @default.
• W2165412148 hasPublicationYear "1999" @default.
• W2165412148 type Work @default.
• W2165412148 sameAs 2165412148 @default.
• W2165412148 citedByCount "8" @default.
• W2165412148 crossrefType "journal-article" @default.
• W2165412148 hasAuthorship W2165412148A5051091681 @default.
• W2165412148 hasAuthorship W2165412148A5084381567 @default.
• W2165412148 hasBestOaLocation W21654121481 @default.
• W2165412148 hasConcept C126322002 @default.
• W2165412148 hasConcept C2776938444 @default.
• W2165412148 hasConcept C71924100 @default.
• W2165412148 hasConceptScore W2165412148C126322002 @default.
• W2165412148 hasConceptScore W2165412148C2776938444 @default.
• W2165412148 hasConceptScore W2165412148C71924100 @default.
• W2165412148 hasIssue "7" @default.
• W2165412148 hasLocation W21654121481 @default.
• W2165412148 hasLocation W21654121482 @default.
• W2165412148 hasOpenAccess W2165412148 @default.
• W2165412148 hasPrimaryLocation W21654121481 @default.
• W2165412148 hasRelatedWork W1572696483 @default.
• W2165412148 hasRelatedWork W1995515455 @default.
• W2165412148 hasRelatedWork W2039318446 @default.
• W2165412148 hasRelatedWork W2080531066 @default.
• W2165412148 hasRelatedWork W2418502454 @default.
• W2165412148 hasRelatedWork W2748952813 @default.
• W2165412148 hasRelatedWork W2899084033 @default.
• W2165412148 hasRelatedWork W3032375762 @default.
• W2165412148 hasRelatedWork W3108674512 @default.
• W2165412148 hasRelatedWork W4249038592 @default.
• W2165412148 hasVolume "45" @default.
• W2165412148 isParatext "false" @default.
• W2165412148 isRetracted "false" @default.
• W2165412148 magId "2165412148" @default.
• W2165412148 workType "article" @default.