Matches in SemOpenAlex for { <https://semopenalex.org/work/W4230174554> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W4230174554 endingPage "386" @default.
- W4230174554 startingPage "379" @default.
- W4230174554 abstract "Elevated blood plasma cholesterol (hypercholesterolemia) is a major risk factor for coronary artery disease (CAD) in humans. Genetic dissection of polygenic lipid and lipoprotein disorders in swine, a key animal model for the study of familial hypercholesterolemia (FH) and CAD, led to the isolation of a monogenic subphenotype (FH-r), that is inherited in the recessive (r) manner. A genome scan mapped the FH-r locus close to the centromere of chromosome 2. Comparative mapping showed that this region shares homology with a part of human chromosome 19 that harbors the low density lipoprotein receptor (LDLR) locus, and therefore suggested LDLR as the prime candidate gene for FH-r. Cloning and sequencing of hepatic LDLR cDNA from two FH-r/r and one normal (N/N) animals disclosed a single missense mutation (R84C) in a region that corresponds to human exon 4. The C84 mutation cosegregates invariantly with hypercholesterolemia, which strongly suggests that this mutation is responsible for the observed hyperlipidemia. Am. J. Med. Genet. 76:379–386, 1998. © 1998 Wiley-Liss, Inc." @default.
- W4230174554 created "2022-05-11" @default.
- W4230174554 creator A5010067999 @default.
- W4230174554 creator A5011861361 @default.
- W4230174554 creator A5047641393 @default.
- W4230174554 creator A5054069337 @default.
- W4230174554 creator A5058411284 @default.
- W4230174554 creator A5073922372 @default.
- W4230174554 creator A5084514376 @default.
- W4230174554 date "1998-04-13" @default.
- W4230174554 modified "2023-10-14" @default.
- W4230174554 title "Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine" @default.
- W4230174554 doi "https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<379::aid-ajmg3>3.3.co;2-g" @default.
- W4230174554 hasPublicationYear "1998" @default.
- W4230174554 type Work @default.
- W4230174554 citedByCount "0" @default.
- W4230174554 crossrefType "journal-article" @default.
- W4230174554 hasAuthorship W4230174554A5010067999 @default.
- W4230174554 hasAuthorship W4230174554A5011861361 @default.
- W4230174554 hasAuthorship W4230174554A5047641393 @default.
- W4230174554 hasAuthorship W4230174554A5054069337 @default.
- W4230174554 hasAuthorship W4230174554A5058411284 @default.
- W4230174554 hasAuthorship W4230174554A5073922372 @default.
- W4230174554 hasAuthorship W4230174554A5084514376 @default.
- W4230174554 hasConcept C104317684 @default.
- W4230174554 hasConcept C134018914 @default.
- W4230174554 hasConcept C2778163477 @default.
- W4230174554 hasConcept C2779120738 @default.
- W4230174554 hasConcept C2780072125 @default.
- W4230174554 hasConcept C3020804800 @default.
- W4230174554 hasConcept C43554185 @default.
- W4230174554 hasConcept C501734568 @default.
- W4230174554 hasConcept C54355233 @default.
- W4230174554 hasConcept C69991583 @default.
- W4230174554 hasConcept C75563809 @default.
- W4230174554 hasConcept C84597430 @default.
- W4230174554 hasConcept C86803240 @default.
- W4230174554 hasConceptScore W4230174554C104317684 @default.
- W4230174554 hasConceptScore W4230174554C134018914 @default.
- W4230174554 hasConceptScore W4230174554C2778163477 @default.
- W4230174554 hasConceptScore W4230174554C2779120738 @default.
- W4230174554 hasConceptScore W4230174554C2780072125 @default.
- W4230174554 hasConceptScore W4230174554C3020804800 @default.
- W4230174554 hasConceptScore W4230174554C43554185 @default.
- W4230174554 hasConceptScore W4230174554C501734568 @default.
- W4230174554 hasConceptScore W4230174554C54355233 @default.
- W4230174554 hasConceptScore W4230174554C69991583 @default.
- W4230174554 hasConceptScore W4230174554C75563809 @default.
- W4230174554 hasConceptScore W4230174554C84597430 @default.
- W4230174554 hasConceptScore W4230174554C86803240 @default.
- W4230174554 hasIssue "5" @default.
- W4230174554 hasLocation W42301745541 @default.
- W4230174554 hasOpenAccess W4230174554 @default.
- W4230174554 hasPrimaryLocation W42301745541 @default.
- W4230174554 hasRelatedWork W1910363558 @default.
- W4230174554 hasRelatedWork W1981048186 @default.
- W4230174554 hasRelatedWork W1987310419 @default.
- W4230174554 hasRelatedWork W2004776908 @default.
- W4230174554 hasRelatedWork W2052253418 @default.
- W4230174554 hasRelatedWork W2086270301 @default.
- W4230174554 hasRelatedWork W2090859105 @default.
- W4230174554 hasRelatedWork W2359957927 @default.
- W4230174554 hasRelatedWork W2763321 @default.
- W4230174554 hasRelatedWork W1592611938 @default.
- W4230174554 hasVolume "76" @default.
- W4230174554 isParatext "false" @default.
- W4230174554 isRetracted "false" @default.
- W4230174554 workType "article" @default.