Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia

Atherosclerosis

Volumn 225, Issue 2, 2012, Pages 370-375

  Tveten, Kristian ^a   Strøm, Thea Bismo ^a   Cameron, Jamie ^a   Berge, Knut Erik ^a   Leren, Trond P ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Cholesterol; Endocytosis; LDL receptor; Mutation; SORT1; Sortilin

Indexed keywords

LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; SMALL INTERFERING RNA; SORTILIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL SURFACE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; GOLGI COMPLEX; HELA CELL; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; IN VITRO STUDY; INTERNALIZATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PLASMID; PRIORITY JOURNAL; PROTEIN BINDING;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADULT; AGED; CELL MEMBRANE; CHOLESTEROL, LDL; DNA MUTATIONAL ANALYSIS; ENDOCYTOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LDL; RISK FACTORS; RNA INTERFERENCE; SEVERITY OF ILLNESS INDEX; TRANSFECTION;

EID: 84869497619     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2012.10.026     Document Type: Article

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