Matches in SemOpenAlex for { <https://semopenalex.org/work/W2433826429> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2433826429 endingPage "8" @default.
- W2433826429 startingPage "185" @default.
- W2433826429 abstract "More than 600 mutations have been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and are known to cause cystic fibrosis (CF). This large number of mutations makes the search of the molecular defects in CF patients difficult. We have used the techniques of denaturing gradient gel electrophoresis (DGGE) and direct DNA sequencing to detect the mutations in 334 CF chromosomes mostly of French origin. The whole coding sequence of the CFTR gene corresponding to the 27 exons and their exon-intron boundaries was studied. 45 different mutations were identified. This method allowed us to detect the molecular defect in 90.5% of the mutant alleles and to report a novel mutation D979V." @default.
- W2433826429 created "2016-06-24" @default.
- W2433826429 creator A5001753668 @default.
- W2433826429 creator A5013677903 @default.
- W2433826429 creator A5030294967 @default.
- W2433826429 creator A5040744124 @default.
- W2433826429 creator A5045436958 @default.
- W2433826429 creator A5056656288 @default.
- W2433826429 date "1997-01-01" @default.
- W2433826429 modified "2023-09-23" @default.
- W2433826429 title "CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V." @default.
- W2433826429 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9401110" @default.
- W2433826429 hasPublicationYear "1997" @default.
- W2433826429 type Work @default.
- W2433826429 sameAs 2433826429 @default.
- W2433826429 citedByCount "0" @default.
- W2433826429 crossrefType "journal-article" @default.
- W2433826429 hasAuthorship W2433826429A5001753668 @default.
- W2433826429 hasAuthorship W2433826429A5013677903 @default.
- W2433826429 hasAuthorship W2433826429A5030294967 @default.
- W2433826429 hasAuthorship W2433826429A5040744124 @default.
- W2433826429 hasAuthorship W2433826429A5045436958 @default.
- W2433826429 hasAuthorship W2433826429A5056656288 @default.
- W2433826429 hasConcept C104317684 @default.
- W2433826429 hasConcept C143065580 @default.
- W2433826429 hasConcept C153911025 @default.
- W2433826429 hasConcept C180754005 @default.
- W2433826429 hasConcept C198549448 @default.
- W2433826429 hasConcept C2776938444 @default.
- W2433826429 hasConcept C2778428886 @default.
- W2433826429 hasConcept C36823959 @default.
- W2433826429 hasConcept C42062724 @default.
- W2433826429 hasConcept C501734568 @default.
- W2433826429 hasConcept C54355233 @default.
- W2433826429 hasConcept C86803240 @default.
- W2433826429 hasConcept C91779695 @default.
- W2433826429 hasConcept C94671646 @default.
- W2433826429 hasConceptScore W2433826429C104317684 @default.
- W2433826429 hasConceptScore W2433826429C143065580 @default.
- W2433826429 hasConceptScore W2433826429C153911025 @default.
- W2433826429 hasConceptScore W2433826429C180754005 @default.
- W2433826429 hasConceptScore W2433826429C198549448 @default.
- W2433826429 hasConceptScore W2433826429C2776938444 @default.
- W2433826429 hasConceptScore W2433826429C2778428886 @default.
- W2433826429 hasConceptScore W2433826429C36823959 @default.
- W2433826429 hasConceptScore W2433826429C42062724 @default.
- W2433826429 hasConceptScore W2433826429C501734568 @default.
- W2433826429 hasConceptScore W2433826429C54355233 @default.
- W2433826429 hasConceptScore W2433826429C86803240 @default.
- W2433826429 hasConceptScore W2433826429C91779695 @default.
- W2433826429 hasConceptScore W2433826429C94671646 @default.
- W2433826429 hasIssue "3" @default.
- W2433826429 hasLocation W24338264291 @default.
- W2433826429 hasOpenAccess W2433826429 @default.
- W2433826429 hasPrimaryLocation W24338264291 @default.
- W2433826429 hasRelatedWork W136468098 @default.
- W2433826429 hasRelatedWork W1599393937 @default.
- W2433826429 hasRelatedWork W1976410393 @default.
- W2433826429 hasRelatedWork W2007211530 @default.
- W2433826429 hasRelatedWork W2033311565 @default.
- W2433826429 hasRelatedWork W2046089186 @default.
- W2433826429 hasRelatedWork W2080935166 @default.
- W2433826429 hasRelatedWork W2082941385 @default.
- W2433826429 hasRelatedWork W2418488235 @default.
- W2433826429 hasRelatedWork W2433826429 @default.
- W2433826429 hasVolume "40" @default.
- W2433826429 isParatext "false" @default.
- W2433826429 isRetracted "false" @default.
- W2433826429 magId "2433826429" @default.
- W2433826429 workType "article" @default.