FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022322532> ?p ?o ?g. }

• W2022322532 endingPage "S53" @default.
• W2022322532 startingPage "S47" @default.
• W2022322532 abstract "Since identification of the gene responsible for cystic fibrosis (CF) in 1989, significant progess has been made in elucidating the mutational basis for this severe, autosomal recessive disease. Such advances have been of major importance in furthering our understanding of the basic defect in CF. Studies of the protein product of the CF gene, referred to as the CF transmembrane conductance regulator (CFTR), indicate that the protein is a Cl− channel but may have additional functions. The most common mutation of the CF gene (ΔF508), which leads to the deletion of a single amino acid on the protein molecule, occurs in approximately 70% of CF chromosomes, but the CF Genetic Analysis Consortium has documented over 300 other sequence alterations of the CF gene. In addition to single amino acid deletions, other types of mutations include missense, nonsense (stop codon), frameshift, and splice-junction mutations. Studies of potential correspondences among these different mutational types and predicted functional domains of the CFTR molecule may provide important clues to the physiologic role of normal CFTR and how a defective protein might lead to the CF phenotype. Analyses of genotype-phenotype relationships have shown strong correlations between particular mutations and pancreatic function. However, associations between genotype and severity of CF pulmonary disease are not clear-cut, suggesting that the pulmonary phenotype is strongly influenced by other genetic or environmental factors." @default.
• W2022322532 created "2016-06-24" @default.
• W2022322532 creator A5002958608 @default.
• W2022322532 date "1995-03-01" @default.
• W2022322532 modified "2023-10-16" @default.
• W2022322532 title "The Cystic Fibrosis Transmembrane Conductance Regulator Gene" @default.
• W2022322532 cites W1526775624 @default.
• W2022322532 cites W1549773614 @default.
• W2022322532 cites W1786021994 @default.
• W2022322532 cites W1796913431 @default.
• W2022322532 cites W185124257 @default.
• W2022322532 cites W1969697265 @default.
• W2022322532 cites W1973868711 @default.
• W2022322532 cites W1975971473 @default.
• W2022322532 cites W1983488739 @default.
• W2022322532 cites W1989059933 @default.
• W2022322532 cites W1990637933 @default.
• W2022322532 cites W1993935349 @default.
• W2022322532 cites W1996874493 @default.
• W2022322532 cites W2010691166 @default.
• W2022322532 cites W2015655328 @default.
• W2022322532 cites W2020458135 @default.
• W2022322532 cites W2028171116 @default.
• W2022322532 cites W2030423815 @default.
• W2022322532 cites W2038772651 @default.
• W2022322532 cites W2039599894 @default.
• W2022322532 cites W2050573110 @default.
• W2022322532 cites W2078282757 @default.
• W2022322532 cites W2079750805 @default.
• W2022322532 cites W2084338677 @default.
• W2022322532 cites W2094020724 @default.
• W2022322532 cites W2102886871 @default.
• W2022322532 cites W2125391335 @default.
• W2022322532 cites W2126458759 @default.
• W2022322532 cites W2128946329 @default.
• W2022322532 cites W2337925307 @default.
• W2022322532 cites W2339803592 @default.
• W2022322532 cites W2417081063 @default.
• W2022322532 cites W3021661733 @default.
• W2022322532 cites W2000770971 @default.
• W2022322532 doi "https://doi.org/10.1164/ajrccm/151.3_pt_2.s47" @default.
• W2022322532 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7533605" @default.
• W2022322532 hasPublicationYear "1995" @default.
• W2022322532 type Work @default.
• W2022322532 sameAs 2022322532 @default.
• W2022322532 citedByCount "109" @default.
• W2022322532 countsByYear W20223225322012 @default.
• W2022322532 countsByYear W20223225322013 @default.
• W2022322532 countsByYear W20223225322014 @default.
• W2022322532 countsByYear W20223225322015 @default.
• W2022322532 countsByYear W20223225322016 @default.
• W2022322532 countsByYear W20223225322018 @default.
• W2022322532 countsByYear W20223225322019 @default.
• W2022322532 countsByYear W20223225322020 @default.
• W2022322532 countsByYear W20223225322021 @default.
• W2022322532 countsByYear W20223225322022 @default.
• W2022322532 crossrefType "journal-article" @default.
• W2022322532 hasAuthorship W2022322532A5002958608 @default.
• W2022322532 hasConcept C104317684 @default.
• W2022322532 hasConcept C127716648 @default.
• W2022322532 hasConcept C150194340 @default.
• W2022322532 hasConcept C170493617 @default.
• W2022322532 hasConcept C195286587 @default.
• W2022322532 hasConcept C24530287 @default.
• W2022322532 hasConcept C2776938444 @default.
• W2022322532 hasConcept C2777893369 @default.
• W2022322532 hasConcept C2778428886 @default.
• W2022322532 hasConcept C29906990 @default.
• W2022322532 hasConcept C501734568 @default.
• W2022322532 hasConcept C54355233 @default.
• W2022322532 hasConcept C75563809 @default.
• W2022322532 hasConcept C86803240 @default.
• W2022322532 hasConcept C96777560 @default.
• W2022322532 hasConceptScore W2022322532C104317684 @default.
• W2022322532 hasConceptScore W2022322532C127716648 @default.
• W2022322532 hasConceptScore W2022322532C150194340 @default.
• W2022322532 hasConceptScore W2022322532C170493617 @default.
• W2022322532 hasConceptScore W2022322532C195286587 @default.
• W2022322532 hasConceptScore W2022322532C24530287 @default.
• W2022322532 hasConceptScore W2022322532C2776938444 @default.
• W2022322532 hasConceptScore W2022322532C2777893369 @default.
• W2022322532 hasConceptScore W2022322532C2778428886 @default.
• W2022322532 hasConceptScore W2022322532C29906990 @default.
• W2022322532 hasConceptScore W2022322532C501734568 @default.
• W2022322532 hasConceptScore W2022322532C54355233 @default.
• W2022322532 hasConceptScore W2022322532C75563809 @default.
• W2022322532 hasConceptScore W2022322532C86803240 @default.
• W2022322532 hasConceptScore W2022322532C96777560 @default.
• W2022322532 hasIssue "3_pt_2" @default.
• W2022322532 hasLocation W20223225321 @default.
• W2022322532 hasLocation W20223225322 @default.
• W2022322532 hasOpenAccess W2022322532 @default.
• W2022322532 hasPrimaryLocation W20223225321 @default.
• W2022322532 hasRelatedWork W1540914548 @default.
• W2022322532 hasRelatedWork W1971086537 @default.
• W2022322532 hasRelatedWork W1971499146 @default.
• W2022322532 hasRelatedWork W2033965408 @default.
• W2022322532 hasRelatedWork W2079236421 @default.

• next