In vitro functional characterization of missense mutations in the LDLR gene

Atherosclerosis

Volumn 225, Issue 1, 2012, Pages 128-134

  Silva, S ^a   Alves, A C ^a,b   Patel, D ^c   Malho R ^b   Soutar, A K ^c   Bourbon, M ^a,b  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b UNIVERSITY OF LISBON   (Portugal)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Familial hypercholesterolaemia; Functional studies; Impaired receptor function; Predicted analysis; Stably transfection of CHO ldlA7 cells

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CARDIOVASCULAR RISK; CONFOCAL MICROSCOPY; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENETIC VARIABILITY; HYPERCHOLESTEROLEMIA; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IMMUNOFLUORESCENCE MICROSCOPY; IN VITRO STUDY; MISSENSE MUTATION; PATHOGENICITY; PREDICTION; PRIORITY JOURNAL; ADOLESCENT; ANIMAL; BIOLOGY; CARDIOVASCULAR DISEASE; CHILD; CHO CELL; FEMALE; GENETICS; HAMSTER; HUMAN; MALE; MIDDLE AGED; RISK FACTOR;

ADOLESCENT; ANIMALS; CARDIOVASCULAR DISEASES; CHILD; CHO CELLS; COMPUTATIONAL BIOLOGY; CRICETINAE; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION, MISSENSE; RECEPTORS, LDL; RISK FACTORS;

EID: 84867851336     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2012.08.017     Document Type: Article

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