Familial Ligand-Defective Apolipoprotein B: Identification of a New Mutation That Decreases LDL Receptor Binding Affinity

Journal of Clinical Investigation

Volumn 95, Issue 3, 1995, Pages 1225-1234

  Pullinger, Clive R ^a   Hennessy, Lori K ^a   Chatterton, Jon E ^c,d   Liu, Weiqun ^a   Love, Janette A ^a   Mendel, Carl M ^a,e   Frost, Philip H ^b   Malloy, Mary J ^a,b   Schumaker, Verne N ^c   Kane, John P ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^e MERCK RESEARCH LABORATORIES   (United States)

Author keywords

Apolipoprotein B; Atherosclerosis; Genetic mutation; Haplotype; Hypercholesterolemia

Indexed keywords

APOLIPOPROTEIN B; ARGININE; CYSTEINE; DNA; LIGAND; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; BINDING AFFINITY; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; HYPERLIPOPROTEINEMIA; LIGAND BINDING; PRIORITY JOURNAL; RECEPTOR BINDING;

ADULT; AMINO ACID SEQUENCE; APOLIPOPROTEINS B; ARGININE; ARTERIOSCLEROSIS; BASE SEQUENCE; CAUCASOID RACE; CHOLESTEROL; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMAN; HYPERCHOLESTEROLEMIA; INDIANS, NORTH AMERICAN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN BINDING; RECEPTORS, LDL; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028961832     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI117772     Document Type: Article

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