Matches in SemOpenAlex for { <https://semopenalex.org/work/W2035772349> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2035772349 endingPage "858" @default.
- W2035772349 startingPage "854" @default.
- W2035772349 abstract "A mutation analysis of the HFE gene followed, when applicable, by sequencing was performed on 47 patients with hereditary haemochromatosis (HH) living in Saguenay–Lac-Saint-Jean. The C282Y and H63D mutations were present on 50% and 20·3% of the HH chromosomes respectively. These frequencies were very different from those found in other populations and could be, at least partially, the result of a founder effect. No new mutation was identified among the remaining 28·1% of the HH chromosomes. Five of the eight probands with no mutation in the HFE gene had a severe and early onset suggestive of juvenile haemochromatosis." @default.
- W2035772349 created "2016-06-24" @default.
- W2035772349 creator A5001279888 @default.
- W2035772349 creator A5003310948 @default.
- W2035772349 creator A5009777335 @default.
- W2035772349 creator A5016226909 @default.
- W2035772349 creator A5028438596 @default.
- W2035772349 creator A5036168448 @default.
- W2035772349 creator A5066521398 @default.
- W2035772349 creator A5072686875 @default.
- W2035772349 creator A5091508503 @default.
- W2035772349 date "2000-03-29" @default.
- W2035772349 modified "2023-10-11" @default.
- W2035772349 title "Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)" @default.
- W2035772349 cites W1602382933 @default.
- W2035772349 cites W173213029 @default.
- W2035772349 cites W1964719002 @default.
- W2035772349 cites W1970975096 @default.
- W2035772349 cites W1979511836 @default.
- W2035772349 cites W1979998051 @default.
- W2035772349 cites W1981883533 @default.
- W2035772349 cites W1988791340 @default.
- W2035772349 cites W1989854417 @default.
- W2035772349 cites W1991134415 @default.
- W2035772349 cites W1993899490 @default.
- W2035772349 cites W2002605005 @default.
- W2035772349 cites W2005260746 @default.
- W2035772349 cites W2039312022 @default.
- W2035772349 cites W2055398309 @default.
- W2035772349 cites W2064495594 @default.
- W2035772349 cites W2098087474 @default.
- W2035772349 cites W2130780753 @default.
- W2035772349 cites W2137217801 @default.
- W2035772349 cites W2143441122 @default.
- W2035772349 cites W2149406240 @default.
- W2035772349 cites W2171719755 @default.
- W2035772349 cites W2312437732 @default.
- W2035772349 cites W4255882238 @default.
- W2035772349 doi "https://doi.org/10.1046/j.1365-2141.2000.01954.x" @default.
- W2035772349 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10792295" @default.
- W2035772349 hasPublicationYear "2000" @default.
- W2035772349 type Work @default.
- W2035772349 sameAs 2035772349 @default.
- W2035772349 citedByCount "11" @default.
- W2035772349 countsByYear W20357723492015 @default.
- W2035772349 crossrefType "journal-article" @default.
- W2035772349 hasAuthorship W2035772349A5001279888 @default.
- W2035772349 hasAuthorship W2035772349A5003310948 @default.
- W2035772349 hasAuthorship W2035772349A5009777335 @default.
- W2035772349 hasAuthorship W2035772349A5016226909 @default.
- W2035772349 hasAuthorship W2035772349A5028438596 @default.
- W2035772349 hasAuthorship W2035772349A5036168448 @default.
- W2035772349 hasAuthorship W2035772349A5066521398 @default.
- W2035772349 hasAuthorship W2035772349A5072686875 @default.
- W2035772349 hasAuthorship W2035772349A5091508503 @default.
- W2035772349 hasConcept C104317684 @default.
- W2035772349 hasConcept C135763542 @default.
- W2035772349 hasConcept C188997412 @default.
- W2035772349 hasConcept C195054827 @default.
- W2035772349 hasConcept C197754878 @default.
- W2035772349 hasConcept C2994225774 @default.
- W2035772349 hasConcept C501734568 @default.
- W2035772349 hasConcept C54355233 @default.
- W2035772349 hasConcept C86803240 @default.
- W2035772349 hasConceptScore W2035772349C104317684 @default.
- W2035772349 hasConceptScore W2035772349C135763542 @default.
- W2035772349 hasConceptScore W2035772349C188997412 @default.
- W2035772349 hasConceptScore W2035772349C195054827 @default.
- W2035772349 hasConceptScore W2035772349C197754878 @default.
- W2035772349 hasConceptScore W2035772349C2994225774 @default.
- W2035772349 hasConceptScore W2035772349C501734568 @default.
- W2035772349 hasConceptScore W2035772349C54355233 @default.
- W2035772349 hasConceptScore W2035772349C86803240 @default.
- W2035772349 hasIssue "4" @default.
- W2035772349 hasLocation W20357723491 @default.
- W2035772349 hasLocation W20357723492 @default.
- W2035772349 hasOpenAccess W2035772349 @default.
- W2035772349 hasPrimaryLocation W20357723491 @default.
- W2035772349 hasRelatedWork W1921465616 @default.
- W2035772349 hasRelatedWork W2012422256 @default.
- W2035772349 hasRelatedWork W2046969420 @default.
- W2035772349 hasRelatedWork W2353510567 @default.
- W2035772349 hasRelatedWork W2358122405 @default.
- W2035772349 hasRelatedWork W2361921133 @default.
- W2035772349 hasRelatedWork W2371392242 @default.
- W2035772349 hasRelatedWork W2406195324 @default.
- W2035772349 hasRelatedWork W2550943714 @default.
- W2035772349 hasRelatedWork W2773838902 @default.
- W2035772349 hasVolume "108" @default.
- W2035772349 isParatext "false" @default.
- W2035772349 isRetracted "false" @default.
- W2035772349 magId "2035772349" @default.
- W2035772349 workType "article" @default.