Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014863220> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2014863220 endingPage "198" @default.
- W2014863220 startingPage "195" @default.
- W2014863220 abstract "Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease." @default.
- W2014863220 created "2016-06-24" @default.
- W2014863220 creator A5002048403 @default.
- W2014863220 creator A5004204696 @default.
- W2014863220 creator A5021851441 @default.
- W2014863220 creator A5024936708 @default.
- W2014863220 creator A5033218711 @default.
- W2014863220 creator A5043653204 @default.
- W2014863220 creator A5046479230 @default.
- W2014863220 creator A5046941904 @default.
- W2014863220 creator A5056358998 @default.
- W2014863220 creator A5060183742 @default.
- W2014863220 date "2011-10-01" @default.
- W2014863220 modified "2023-09-24" @default.
- W2014863220 title "DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient" @default.
- W2014863220 cites W1981832840 @default.
- W2014863220 cites W1992800838 @default.
- W2014863220 cites W2018056704 @default.
- W2014863220 cites W2019481036 @default.
- W2014863220 cites W2054576371 @default.
- W2014863220 cites W2069339883 @default.
- W2014863220 cites W2085777790 @default.
- W2014863220 cites W2086380490 @default.
- W2014863220 cites W2118094114 @default.
- W2014863220 cites W2135970843 @default.
- W2014863220 cites W2143190548 @default.
- W2014863220 cites W2163501447 @default.
- W2014863220 cites W3021514538 @default.
- W2014863220 doi "https://doi.org/10.1016/j.mcp.2011.07.003" @default.
- W2014863220 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21925265" @default.
- W2014863220 hasPublicationYear "2011" @default.
- W2014863220 type Work @default.
- W2014863220 sameAs 2014863220 @default.
- W2014863220 citedByCount "5" @default.
- W2014863220 countsByYear W20148632202015 @default.
- W2014863220 countsByYear W20148632202016 @default.
- W2014863220 countsByYear W20148632202018 @default.
- W2014863220 countsByYear W20148632202019 @default.
- W2014863220 crossrefType "journal-article" @default.
- W2014863220 hasAuthorship W2014863220A5002048403 @default.
- W2014863220 hasAuthorship W2014863220A5004204696 @default.
- W2014863220 hasAuthorship W2014863220A5021851441 @default.
- W2014863220 hasAuthorship W2014863220A5024936708 @default.
- W2014863220 hasAuthorship W2014863220A5033218711 @default.
- W2014863220 hasAuthorship W2014863220A5043653204 @default.
- W2014863220 hasAuthorship W2014863220A5046479230 @default.
- W2014863220 hasAuthorship W2014863220A5046941904 @default.
- W2014863220 hasAuthorship W2014863220A5056358998 @default.
- W2014863220 hasAuthorship W2014863220A5060183742 @default.
- W2014863220 hasConcept C104317684 @default.
- W2014863220 hasConcept C142724271 @default.
- W2014863220 hasConcept C153911025 @default.
- W2014863220 hasConcept C2776231509 @default.
- W2014863220 hasConcept C2779134260 @default.
- W2014863220 hasConcept C36823959 @default.
- W2014863220 hasConcept C501734568 @default.
- W2014863220 hasConcept C54355233 @default.
- W2014863220 hasConcept C552990157 @default.
- W2014863220 hasConcept C67705224 @default.
- W2014863220 hasConcept C71924100 @default.
- W2014863220 hasConcept C86803240 @default.
- W2014863220 hasConcept C94671646 @default.
- W2014863220 hasConceptScore W2014863220C104317684 @default.
- W2014863220 hasConceptScore W2014863220C142724271 @default.
- W2014863220 hasConceptScore W2014863220C153911025 @default.
- W2014863220 hasConceptScore W2014863220C2776231509 @default.
- W2014863220 hasConceptScore W2014863220C2779134260 @default.
- W2014863220 hasConceptScore W2014863220C36823959 @default.
- W2014863220 hasConceptScore W2014863220C501734568 @default.
- W2014863220 hasConceptScore W2014863220C54355233 @default.
- W2014863220 hasConceptScore W2014863220C552990157 @default.
- W2014863220 hasConceptScore W2014863220C67705224 @default.
- W2014863220 hasConceptScore W2014863220C71924100 @default.
- W2014863220 hasConceptScore W2014863220C86803240 @default.
- W2014863220 hasConceptScore W2014863220C94671646 @default.
- W2014863220 hasIssue "5-6" @default.
- W2014863220 hasLocation W20148632201 @default.
- W2014863220 hasLocation W20148632202 @default.
- W2014863220 hasOpenAccess W2014863220 @default.
- W2014863220 hasPrimaryLocation W20148632201 @default.
- W2014863220 hasRelatedWork W1967095384 @default.
- W2014863220 hasRelatedWork W1982707814 @default.
- W2014863220 hasRelatedWork W2030572150 @default.
- W2014863220 hasRelatedWork W2037918956 @default.
- W2014863220 hasRelatedWork W2039352533 @default.
- W2014863220 hasRelatedWork W2054014494 @default.
- W2014863220 hasRelatedWork W2073534395 @default.
- W2014863220 hasRelatedWork W2092554027 @default.
- W2014863220 hasRelatedWork W2376297435 @default.
- W2014863220 hasRelatedWork W4242521457 @default.
- W2014863220 hasVolume "25" @default.
- W2014863220 isParatext "false" @default.
- W2014863220 isRetracted "false" @default.
- W2014863220 magId "2014863220" @default.
- W2014863220 workType "article" @default.