Matches in SemOpenAlex for { <https://semopenalex.org/work/W1977362246> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W1977362246 endingPage "125" @default.
- W1977362246 startingPage "122" @default.
- W1977362246 abstract "This study reports the molecular characterisation of the bilirubin UDP-glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence analysis of both UGT1A exon 1 and common exons 2-5 was performed in all patients, leading to the detection of AF170 and a novel mutation (470insT), both residing in UGT1A exon 1. All but two heterozygotes for the AF170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)7TAA in the promoter region of the UGT1A gene." @default.
- W1977362246 created "2016-06-24" @default.
- W1977362246 creator A5002084488 @default.
- W1977362246 creator A5003163693 @default.
- W1977362246 creator A5004204696 @default.
- W1977362246 creator A5009165695 @default.
- W1977362246 creator A5026950818 @default.
- W1977362246 creator A5029683989 @default.
- W1977362246 creator A5055952111 @default.
- W1977362246 creator A5056880073 @default.
- W1977362246 creator A5067115628 @default.
- W1977362246 date "1997-02-01" @default.
- W1977362246 modified "2023-10-12" @default.
- W1977362246 title "Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I." @default.
- W1977362246 cites W1486575517 @default.
- W1977362246 cites W1497837463 @default.
- W1977362246 cites W1572023751 @default.
- W1977362246 cites W186326386 @default.
- W1977362246 cites W1988891326 @default.
- W1977362246 cites W1991344372 @default.
- W1977362246 cites W1994924375 @default.
- W1977362246 cites W2004441139 @default.
- W1977362246 cites W2019036249 @default.
- W1977362246 cites W2063990241 @default.
- W1977362246 cites W2089720722 @default.
- W1977362246 cites W2135716823 @default.
- W1977362246 cites W2159146649 @default.
- W1977362246 cites W2322536880 @default.
- W1977362246 doi "https://doi.org/10.1136/jmg.34.2.122" @default.
- W1977362246 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1050864" @default.
- W1977362246 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9039987" @default.
- W1977362246 hasPublicationYear "1997" @default.
- W1977362246 type Work @default.
- W1977362246 sameAs 1977362246 @default.
- W1977362246 citedByCount "19" @default.
- W1977362246 countsByYear W19773622462012 @default.
- W1977362246 countsByYear W19773622462013 @default.
- W1977362246 countsByYear W19773622462020 @default.
- W1977362246 countsByYear W19773622462022 @default.
- W1977362246 crossrefType "journal-article" @default.
- W1977362246 hasAuthorship W1977362246A5002084488 @default.
- W1977362246 hasAuthorship W1977362246A5003163693 @default.
- W1977362246 hasAuthorship W1977362246A5004204696 @default.
- W1977362246 hasAuthorship W1977362246A5009165695 @default.
- W1977362246 hasAuthorship W1977362246A5026950818 @default.
- W1977362246 hasAuthorship W1977362246A5029683989 @default.
- W1977362246 hasAuthorship W1977362246A5055952111 @default.
- W1977362246 hasAuthorship W1977362246A5056880073 @default.
- W1977362246 hasAuthorship W1977362246A5067115628 @default.
- W1977362246 hasBestOaLocation W19773622461 @default.
- W1977362246 hasConcept C104317684 @default.
- W1977362246 hasConcept C12125453 @default.
- W1977362246 hasConcept C153471976 @default.
- W1977362246 hasConcept C180754005 @default.
- W1977362246 hasConcept C2778112365 @default.
- W1977362246 hasConcept C36823959 @default.
- W1977362246 hasConcept C501734568 @default.
- W1977362246 hasConcept C54355233 @default.
- W1977362246 hasConcept C86803240 @default.
- W1977362246 hasConceptScore W1977362246C104317684 @default.
- W1977362246 hasConceptScore W1977362246C12125453 @default.
- W1977362246 hasConceptScore W1977362246C153471976 @default.
- W1977362246 hasConceptScore W1977362246C180754005 @default.
- W1977362246 hasConceptScore W1977362246C2778112365 @default.
- W1977362246 hasConceptScore W1977362246C36823959 @default.
- W1977362246 hasConceptScore W1977362246C501734568 @default.
- W1977362246 hasConceptScore W1977362246C54355233 @default.
- W1977362246 hasConceptScore W1977362246C86803240 @default.
- W1977362246 hasIssue "2" @default.
- W1977362246 hasLocation W19773622461 @default.
- W1977362246 hasLocation W19773622462 @default.
- W1977362246 hasLocation W19773622463 @default.
- W1977362246 hasLocation W19773622464 @default.
- W1977362246 hasOpenAccess W1977362246 @default.
- W1977362246 hasPrimaryLocation W19773622461 @default.
- W1977362246 hasRelatedWork W1964168685 @default.
- W1977362246 hasRelatedWork W1993854347 @default.
- W1977362246 hasRelatedWork W2054509832 @default.
- W1977362246 hasRelatedWork W2090410200 @default.
- W1977362246 hasRelatedWork W2167089067 @default.
- W1977362246 hasRelatedWork W2359850611 @default.
- W1977362246 hasRelatedWork W2363132949 @default.
- W1977362246 hasRelatedWork W2388007221 @default.
- W1977362246 hasRelatedWork W2389252788 @default.
- W1977362246 hasRelatedWork W61187599 @default.
- W1977362246 hasVolume "34" @default.
- W1977362246 isParatext "false" @default.
- W1977362246 isRetracted "false" @default.
- W1977362246 magId "1977362246" @default.
- W1977362246 workType "article" @default.