Matches in SemOpenAlex for { <https://semopenalex.org/work/W2078680495> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2078680495 endingPage "691" @default.
- W2078680495 startingPage "690" @default.
- W2078680495 abstract "The presence of the 5569A polymorphism may lead to misdiagnosis of patients susceptible of hereditary hemochromatosis (HH). For that reason, samples containing the Cys282Tyr mutation were revised and the frequency of this polymorphism in our environment was assessed.Twenty samples were retested and 56 controls were included. The study was performed by PCR-RFLP.The diagnosis was confirmed in 8 cases susceptible of error. However, an amplification deficiency of normal alleles was detected in 2 heterozygous (17%). The allelic frequency of the 5569A polymorphism in the control population was 14.3%.Although misdiagnosis was not committed, we recommend changing to any primer that does not include the 5569G/A polymorphism in the study of HH." @default.
- W2078680495 created "2016-06-24" @default.
- W2078680495 creator A5025694605 @default.
- W2078680495 creator A5039310868 @default.
- W2078680495 creator A5052749916 @default.
- W2078680495 creator A5070624001 @default.
- W2078680495 creator A5075497438 @default.
- W2078680495 date "2001-01-01" @default.
- W2078680495 modified "2023-10-01" @default.
- W2078680495 title "Importancia del polimorfismo 5569G/A del intrón 4 del gen HFE en el diagnóstico de la hemocromatosis hereditaria" @default.
- W2078680495 cites W1486343653 @default.
- W2078680495 cites W1496595915 @default.
- W2078680495 cites W158787816 @default.
- W2078680495 cites W167795090 @default.
- W2078680495 cites W1821395287 @default.
- W2078680495 cites W1842952769 @default.
- W2078680495 cites W1986976917 @default.
- W2078680495 cites W1999697457 @default.
- W2078680495 cites W2002605005 @default.
- W2078680495 doi "https://doi.org/10.1016/s0025-7753(01)72225-7" @default.
- W2078680495 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11730630" @default.
- W2078680495 hasPublicationYear "2001" @default.
- W2078680495 type Work @default.
- W2078680495 sameAs 2078680495 @default.
- W2078680495 citedByCount "0" @default.
- W2078680495 crossrefType "journal-article" @default.
- W2078680495 hasAuthorship W2078680495A5025694605 @default.
- W2078680495 hasAuthorship W2078680495A5039310868 @default.
- W2078680495 hasAuthorship W2078680495A5052749916 @default.
- W2078680495 hasAuthorship W2078680495A5070624001 @default.
- W2078680495 hasAuthorship W2078680495A5075497438 @default.
- W2078680495 hasConcept C104317684 @default.
- W2078680495 hasConcept C135763542 @default.
- W2078680495 hasConcept C149737253 @default.
- W2078680495 hasConcept C153911025 @default.
- W2078680495 hasConcept C168007829 @default.
- W2078680495 hasConcept C180754005 @default.
- W2078680495 hasConcept C2776590208 @default.
- W2078680495 hasConcept C3018783601 @default.
- W2078680495 hasConcept C37463918 @default.
- W2078680495 hasConcept C54355233 @default.
- W2078680495 hasConcept C71924100 @default.
- W2078680495 hasConcept C86803240 @default.
- W2078680495 hasConcept C90924648 @default.
- W2078680495 hasConceptScore W2078680495C104317684 @default.
- W2078680495 hasConceptScore W2078680495C135763542 @default.
- W2078680495 hasConceptScore W2078680495C149737253 @default.
- W2078680495 hasConceptScore W2078680495C153911025 @default.
- W2078680495 hasConceptScore W2078680495C168007829 @default.
- W2078680495 hasConceptScore W2078680495C180754005 @default.
- W2078680495 hasConceptScore W2078680495C2776590208 @default.
- W2078680495 hasConceptScore W2078680495C3018783601 @default.
- W2078680495 hasConceptScore W2078680495C37463918 @default.
- W2078680495 hasConceptScore W2078680495C54355233 @default.
- W2078680495 hasConceptScore W2078680495C71924100 @default.
- W2078680495 hasConceptScore W2078680495C86803240 @default.
- W2078680495 hasConceptScore W2078680495C90924648 @default.
- W2078680495 hasIssue "18" @default.
- W2078680495 hasLocation W20786804951 @default.
- W2078680495 hasLocation W20786804952 @default.
- W2078680495 hasOpenAccess W2078680495 @default.
- W2078680495 hasPrimaryLocation W20786804951 @default.
- W2078680495 hasRelatedWork W2008843816 @default.
- W2078680495 hasRelatedWork W2035638949 @default.
- W2078680495 hasRelatedWork W2037414907 @default.
- W2078680495 hasRelatedWork W2182934337 @default.
- W2078680495 hasRelatedWork W2361672301 @default.
- W2078680495 hasRelatedWork W2366428412 @default.
- W2078680495 hasRelatedWork W2381344397 @default.
- W2078680495 hasRelatedWork W2382559622 @default.
- W2078680495 hasRelatedWork W2388353467 @default.
- W2078680495 hasRelatedWork W2957163721 @default.
- W2078680495 hasVolume "117" @default.
- W2078680495 isParatext "false" @default.
- W2078680495 isRetracted "false" @default.
- W2078680495 magId "2078680495" @default.
- W2078680495 workType "article" @default.