Matches in SemOpenAlex for { <https://semopenalex.org/work/W1995581286> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W1995581286 endingPage "687" @default.
- W1995581286 startingPage "681" @default.
- W1995581286 abstract "β-thalassemia represents a great heterogeneity as over 200 mutations have been identified for the β-globin gene responsible for this disease. A rapid genotyping test with high accuracy, selectivity, and reproducibility suitable for the determination of known mutations is needed for prenatal screening and post-natal diagnosis of this disease in clinical setting. We have performed the validation of a DHPLC assay for direct genotyping of known causative mutations in β-globin gene using the chromatographic pattern-based strategy under partially-denaturing conditions. DHPLC assay was established based on the analysis of 795 DNA samples from a group of various genotypes for the 20 mutations and 8 polymorphisms in β-globin gene then validated on 319 tests in a blind study. The results obtained with this assay were in concordance with the results obtained by DNA sequence analysis. This simple method can meet the requirements of direct genotyping of known β-thalassemia mutations and/or polymorphisms in the clinical setting for Chinese and in general as a model for other populations." @default.
- W1995581286 created "2016-06-24" @default.
- W1995581286 creator A5000426662 @default.
- W1995581286 creator A5020553125 @default.
- W1995581286 creator A5039448468 @default.
- W1995581286 creator A5058487121 @default.
- W1995581286 creator A5066427486 @default.
- W1995581286 creator A5068876916 @default.
- W1995581286 creator A5069771802 @default.
- W1995581286 date "2008-06-01" @default.
- W1995581286 modified "2023-10-13" @default.
- W1995581286 title "Rapid genotyping of known mutations and polymorphisms in β-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes" @default.
- W1995581286 cites W1624345631 @default.
- W1995581286 cites W1967402336 @default.
- W1995581286 cites W1976751662 @default.
- W1995581286 cites W1979115501 @default.
- W1995581286 cites W1994920004 @default.
- W1995581286 cites W2006376640 @default.
- W1995581286 cites W2010463957 @default.
- W1995581286 cites W2049961703 @default.
- W1995581286 cites W2055082147 @default.
- W1995581286 cites W2064063117 @default.
- W1995581286 cites W2073786253 @default.
- W1995581286 cites W2079633183 @default.
- W1995581286 cites W2114608828 @default.
- W1995581286 cites W2123093555 @default.
- W1995581286 cites W2158907117 @default.
- W1995581286 cites W2164981820 @default.
- W1995581286 cites W2415427142 @default.
- W1995581286 cites W4246480901 @default.
- W1995581286 doi "https://doi.org/10.1016/j.clinbiochem.2008.02.008" @default.
- W1995581286 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18339318" @default.
- W1995581286 hasPublicationYear "2008" @default.
- W1995581286 type Work @default.
- W1995581286 sameAs 1995581286 @default.
- W1995581286 citedByCount "22" @default.
- W1995581286 countsByYear W19955812862012 @default.
- W1995581286 countsByYear W19955812862013 @default.
- W1995581286 countsByYear W19955812862014 @default.
- W1995581286 countsByYear W19955812862016 @default.
- W1995581286 countsByYear W19955812862017 @default.
- W1995581286 countsByYear W19955812862020 @default.
- W1995581286 countsByYear W19955812862022 @default.
- W1995581286 countsByYear W19955812862023 @default.
- W1995581286 crossrefType "journal-article" @default.
- W1995581286 hasAuthorship W1995581286A5000426662 @default.
- W1995581286 hasAuthorship W1995581286A5020553125 @default.
- W1995581286 hasAuthorship W1995581286A5039448468 @default.
- W1995581286 hasAuthorship W1995581286A5058487121 @default.
- W1995581286 hasAuthorship W1995581286A5066427486 @default.
- W1995581286 hasAuthorship W1995581286A5068876916 @default.
- W1995581286 hasAuthorship W1995581286A5069771802 @default.
- W1995581286 hasConcept C104317684 @default.
- W1995581286 hasConcept C135763542 @default.
- W1995581286 hasConcept C153911025 @default.
- W1995581286 hasConcept C160798450 @default.
- W1995581286 hasConcept C2776053618 @default.
- W1995581286 hasConcept C2777799968 @default.
- W1995581286 hasConcept C2994225774 @default.
- W1995581286 hasConcept C31467283 @default.
- W1995581286 hasConcept C501734568 @default.
- W1995581286 hasConcept C54355233 @default.
- W1995581286 hasConcept C86803240 @default.
- W1995581286 hasConceptScore W1995581286C104317684 @default.
- W1995581286 hasConceptScore W1995581286C135763542 @default.
- W1995581286 hasConceptScore W1995581286C153911025 @default.
- W1995581286 hasConceptScore W1995581286C160798450 @default.
- W1995581286 hasConceptScore W1995581286C2776053618 @default.
- W1995581286 hasConceptScore W1995581286C2777799968 @default.
- W1995581286 hasConceptScore W1995581286C2994225774 @default.
- W1995581286 hasConceptScore W1995581286C31467283 @default.
- W1995581286 hasConceptScore W1995581286C501734568 @default.
- W1995581286 hasConceptScore W1995581286C54355233 @default.
- W1995581286 hasConceptScore W1995581286C86803240 @default.
- W1995581286 hasIssue "9" @default.
- W1995581286 hasLocation W19955812861 @default.
- W1995581286 hasLocation W19955812862 @default.
- W1995581286 hasOpenAccess W1995581286 @default.
- W1995581286 hasPrimaryLocation W19955812861 @default.
- W1995581286 hasRelatedWork W2071708517 @default.
- W1995581286 hasRelatedWork W2140101526 @default.
- W1995581286 hasRelatedWork W2351587042 @default.
- W1995581286 hasRelatedWork W2353094882 @default.
- W1995581286 hasRelatedWork W2367139548 @default.
- W1995581286 hasRelatedWork W2367841709 @default.
- W1995581286 hasRelatedWork W2393443997 @default.
- W1995581286 hasRelatedWork W2394898621 @default.
- W1995581286 hasRelatedWork W2411428748 @default.
- W1995581286 hasRelatedWork W3029623813 @default.
- W1995581286 hasVolume "41" @default.
- W1995581286 isParatext "false" @default.
- W1995581286 isRetracted "false" @default.
- W1995581286 magId "1995581286" @default.
- W1995581286 workType "article" @default.