Matches in SemOpenAlex for { <https://semopenalex.org/work/W2149784410> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2149784410 endingPage "8" @default.
- W2149784410 startingPage "591" @default.
- W2149784410 abstract "The provision of a prenatal diagnosis service for thalassaemia is becoming more demanding. In an ethnically-diverse community, the number of mutations has increased. Requests for prenatal testing continue to come at advanced stage in pregnancy, often without the underlying mutation having been identified. Although controls are included in PCR assays, errors can still occur. The alternative to DNA testing, i.e., an alpha/beta globin chain synthesis ratio on a fetal blood sample, is now less readily available. In the circumstances described, the laboratory must adopt a more efficient and reliable approach to DNA mutation analysis. With currently available technology, this improvement is more likely to come through increased automation. To achieve this aim, we have moved to capillary electrophoresis. With capillary electrophoresis we are able to use a PCR-based screening strategy which can detect up to 11 beta thalassaemia mutations. The actual prenatal test is undertaken using two independent PCRs thereby reducing the potential for error. Despite the advantages of PCR, approximately 12 per cent of beta thalassaemia and about nine per cent of alpha thalassaemia cases require further study in our experience. In this situation, capillary electrophoresis has again proven helpful since a DNA scanning approach, such as single strand conformation polymorphism, can be automated to identify the region of DNA to be sequenced." @default.
- W2149784410 created "2016-06-24" @default.
- W2149784410 creator A5031716595 @default.
- W2149784410 creator A5042391667 @default.
- W2149784410 creator A5061249603 @default.
- W2149784410 date "1998-06-01" @default.
- W2149784410 modified "2023-09-24" @default.
- W2149784410 title "Prenatal diagnosis for thalassaemia in a multicultural society." @default.
- W2149784410 cites W1536233692 @default.
- W2149784410 cites W1608690192 @default.
- W2149784410 cites W1996027687 @default.
- W2149784410 cites W1998798036 @default.
- W2149784410 cites W2004082093 @default.
- W2149784410 cites W2026882106 @default.
- W2149784410 cites W2032272243 @default.
- W2149784410 cites W2064063117 @default.
- W2149784410 cites W2066795911 @default.
- W2149784410 cites W2079623673 @default.
- W2149784410 cites W2417352533 @default.
- W2149784410 cites W2994548081 @default.
- W2149784410 cites W73960104 @default.
- W2149784410 cites W3145999354 @default.
- W2149784410 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9664605" @default.
- W2149784410 hasPublicationYear "1998" @default.
- W2149784410 type Work @default.
- W2149784410 sameAs 2149784410 @default.
- W2149784410 citedByCount "3" @default.
- W2149784410 crossrefType "journal-article" @default.
- W2149784410 hasAuthorship W2149784410A5031716595 @default.
- W2149784410 hasAuthorship W2149784410A5042391667 @default.
- W2149784410 hasAuthorship W2149784410A5061249603 @default.
- W2149784410 hasConcept C104317684 @default.
- W2149784410 hasConcept C153911025 @default.
- W2149784410 hasConcept C172680121 @default.
- W2149784410 hasConcept C2777799968 @default.
- W2149784410 hasConcept C2777940137 @default.
- W2149784410 hasConcept C2778258057 @default.
- W2149784410 hasConcept C2779234561 @default.
- W2149784410 hasConcept C2900643 @default.
- W2149784410 hasConcept C49105822 @default.
- W2149784410 hasConcept C501734568 @default.
- W2149784410 hasConcept C54355233 @default.
- W2149784410 hasConcept C552990157 @default.
- W2149784410 hasConcept C70721500 @default.
- W2149784410 hasConcept C71924100 @default.
- W2149784410 hasConcept C86803240 @default.
- W2149784410 hasConceptScore W2149784410C104317684 @default.
- W2149784410 hasConceptScore W2149784410C153911025 @default.
- W2149784410 hasConceptScore W2149784410C172680121 @default.
- W2149784410 hasConceptScore W2149784410C2777799968 @default.
- W2149784410 hasConceptScore W2149784410C2777940137 @default.
- W2149784410 hasConceptScore W2149784410C2778258057 @default.
- W2149784410 hasConceptScore W2149784410C2779234561 @default.
- W2149784410 hasConceptScore W2149784410C2900643 @default.
- W2149784410 hasConceptScore W2149784410C49105822 @default.
- W2149784410 hasConceptScore W2149784410C501734568 @default.
- W2149784410 hasConceptScore W2149784410C54355233 @default.
- W2149784410 hasConceptScore W2149784410C552990157 @default.
- W2149784410 hasConceptScore W2149784410C70721500 @default.
- W2149784410 hasConceptScore W2149784410C71924100 @default.
- W2149784410 hasConceptScore W2149784410C86803240 @default.
- W2149784410 hasIssue "6" @default.
- W2149784410 hasLocation W21497844101 @default.
- W2149784410 hasOpenAccess W2149784410 @default.
- W2149784410 hasPrimaryLocation W21497844101 @default.
- W2149784410 hasRelatedWork W1967814456 @default.
- W2149784410 hasRelatedWork W2040891433 @default.
- W2149784410 hasRelatedWork W2044511734 @default.
- W2149784410 hasRelatedWork W2057248183 @default.
- W2149784410 hasRelatedWork W2083831775 @default.
- W2149784410 hasRelatedWork W2299294290 @default.
- W2149784410 hasRelatedWork W2362855334 @default.
- W2149784410 hasRelatedWork W2372024986 @default.
- W2149784410 hasRelatedWork W4246646279 @default.
- W2149784410 hasRelatedWork W87451109 @default.
- W2149784410 hasVolume "18" @default.
- W2149784410 isParatext "false" @default.
- W2149784410 isRetracted "false" @default.
- W2149784410 magId "2149784410" @default.
- W2149784410 workType "article" @default.