Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR

Human Molecular Genetics

Volumn 24, Issue 20, 2015, Pages 5836-5844

  Strøm, Thea Bismo ^a   Laerdahl, Jon K ^a,b   Leren, Trond P ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEUCINE; LOW DENSITY LIPOPROTEIN RECEPTOR; METALLOPROTEINASE; MUTANT PROTEIN; LDLR PROTEIN, HUMAN;

ARTICLE; CELL LYSATE; CELL MEMBRANE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE MUTATION; GENETIC CONSERVATION; HEPG2 CELL LINE; HUMAN; HUMAN CELL; HYDROPHOBICITY; MUTATIONAL ANALYSIS; PLASMID; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECRETION; SEQUENCE ALIGNMENT; WESTERN BLOTTING; CHEMISTRY; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC TRANSFECTION; GENETICS; METABOLISM; MUTATION; PROTEIN MOTIF;

AMINO ACID MOTIFS; CELL MEMBRANE; HEP G2 CELLS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; RECEPTORS, LDL; SEQUENCE ALIGNMENT; TRANSFECTION;

EID: 84943740403     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv304     Document Type: Article

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