Matches in SemOpenAlex for { <https://semopenalex.org/work/W2019771209> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2019771209 endingPage "152" @default.
- W2019771209 startingPage "149" @default.
- W2019771209 abstract "Twelve familial hypercholesterolemia (FH) patients of different ancestries living in South Africa were subjected to mutation analysis of the low-density lipoprotein receptor (LDLR) gene. Nine different mutations were identified in 10 patients. Six of these, including the founder-related mutation C660X identified in two Lebanese patients, have previously been described in other FH patients with compatible genetic backgrounds, and/or in patients originating from countries where admixture is not uncommon. Characterization of an abnormal electrophoresis pattern detected in exon 4 of the LDLR gene by heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis, revealed a novel G deletion at codon 185 (617delG) which resulted in a downstream stop codon. Two of the new mutations identified resulted in amino acid substitutions and were designated R57C and Q357P." @default.
- W2019771209 created "2016-06-24" @default.
- W2019771209 creator A5002279171 @default.
- W2019771209 creator A5009628160 @default.
- W2019771209 creator A5018766932 @default.
- W2019771209 creator A5035321027 @default.
- W2019771209 creator A5044425699 @default.
- W2019771209 creator A5047300151 @default.
- W2019771209 date "1998-06-01" @default.
- W2019771209 modified "2023-09-23" @default.
- W2019771209 title "Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations" @default.
- W2019771209 cites W1569405015 @default.
- W2019771209 cites W174482231 @default.
- W2019771209 cites W1982684278 @default.
- W2019771209 cites W1986632968 @default.
- W2019771209 cites W1989450179 @default.
- W2019771209 cites W1997925291 @default.
- W2019771209 cites W2000898847 @default.
- W2019771209 cites W2031284852 @default.
- W2019771209 cites W2057394745 @default.
- W2019771209 cites W2102063763 @default.
- W2019771209 cites W2140872110 @default.
- W2019771209 cites W2151675684 @default.
- W2019771209 cites W2152561695 @default.
- W2019771209 cites W4300712547 @default.
- W2019771209 doi "https://doi.org/10.1006/mcpr.1998.0164" @default.
- W2019771209 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9664576" @default.
- W2019771209 hasPublicationYear "1998" @default.
- W2019771209 type Work @default.
- W2019771209 sameAs 2019771209 @default.
- W2019771209 citedByCount "11" @default.
- W2019771209 countsByYear W20197712092012 @default.
- W2019771209 countsByYear W20197712092014 @default.
- W2019771209 countsByYear W20197712092016 @default.
- W2019771209 countsByYear W20197712092017 @default.
- W2019771209 countsByYear W20197712092020 @default.
- W2019771209 countsByYear W20197712092022 @default.
- W2019771209 crossrefType "journal-article" @default.
- W2019771209 hasAuthorship W2019771209A5002279171 @default.
- W2019771209 hasAuthorship W2019771209A5009628160 @default.
- W2019771209 hasAuthorship W2019771209A5018766932 @default.
- W2019771209 hasAuthorship W2019771209A5035321027 @default.
- W2019771209 hasAuthorship W2019771209A5044425699 @default.
- W2019771209 hasAuthorship W2019771209A5047300151 @default.
- W2019771209 hasConcept C104317684 @default.
- W2019771209 hasConcept C129219603 @default.
- W2019771209 hasConcept C134494468 @default.
- W2019771209 hasConcept C153911025 @default.
- W2019771209 hasConcept C163565370 @default.
- W2019771209 hasConcept C20580545 @default.
- W2019771209 hasConcept C2778163477 @default.
- W2019771209 hasConcept C2779120738 @default.
- W2019771209 hasConcept C2780072125 @default.
- W2019771209 hasConcept C36823959 @default.
- W2019771209 hasConcept C43554185 @default.
- W2019771209 hasConcept C501734568 @default.
- W2019771209 hasConcept C54355233 @default.
- W2019771209 hasConcept C55493867 @default.
- W2019771209 hasConcept C86803240 @default.
- W2019771209 hasConceptScore W2019771209C104317684 @default.
- W2019771209 hasConceptScore W2019771209C129219603 @default.
- W2019771209 hasConceptScore W2019771209C134494468 @default.
- W2019771209 hasConceptScore W2019771209C153911025 @default.
- W2019771209 hasConceptScore W2019771209C163565370 @default.
- W2019771209 hasConceptScore W2019771209C20580545 @default.
- W2019771209 hasConceptScore W2019771209C2778163477 @default.
- W2019771209 hasConceptScore W2019771209C2779120738 @default.
- W2019771209 hasConceptScore W2019771209C2780072125 @default.
- W2019771209 hasConceptScore W2019771209C36823959 @default.
- W2019771209 hasConceptScore W2019771209C43554185 @default.
- W2019771209 hasConceptScore W2019771209C501734568 @default.
- W2019771209 hasConceptScore W2019771209C54355233 @default.
- W2019771209 hasConceptScore W2019771209C55493867 @default.
- W2019771209 hasConceptScore W2019771209C86803240 @default.
- W2019771209 hasIssue "3" @default.
- W2019771209 hasLocation W20197712091 @default.
- W2019771209 hasLocation W20197712092 @default.
- W2019771209 hasOpenAccess W2019771209 @default.
- W2019771209 hasPrimaryLocation W20197712091 @default.
- W2019771209 hasRelatedWork W1963509038 @default.
- W2019771209 hasRelatedWork W1964954073 @default.
- W2019771209 hasRelatedWork W1965610572 @default.
- W2019771209 hasRelatedWork W2019771209 @default.
- W2019771209 hasRelatedWork W2028057463 @default.
- W2019771209 hasRelatedWork W2047496644 @default.
- W2019771209 hasRelatedWork W2058500316 @default.
- W2019771209 hasRelatedWork W2067337368 @default.
- W2019771209 hasRelatedWork W2359957927 @default.
- W2019771209 hasRelatedWork W2372801039 @default.
- W2019771209 hasVolume "12" @default.
- W2019771209 isParatext "false" @default.
- W2019771209 isRetracted "false" @default.
- W2019771209 magId "2019771209" @default.
- W2019771209 workType "article" @default.