Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

Atherosclerosis

Volumn 210, Issue 2, 2010, Pages 493-496

  Romano, Maria ^a,b   Di Taranto, Maria Donata ^c   D'Agostino, Maria Nicoletta ^a,b   Marotta, Gennaro ^b   Gentile, Marco ^b   Abate, Giovanna ^a   Mirabelli, Peppino ^a,b   Di Noto, Rosa ^a,b   Del Vecchio, Luigi ^a,b   Rubba, Paolo ^b   Fortunato, Giuliana ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c IRCCS SDN   (Italy)

Author keywords

Familial hypercholesterolemia; Large rearrangements; LDL receptor; LDL uptake assay

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; B LYMPHOCYTE; CONTROLLED STUDY; DNA SEQUENCE; EPSTEIN BARR VIRUS; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FLUORESCENCE ANALYSIS; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; ITALY; LYMPHOCYTE TRANSFORMATION; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS;

APOLIPOPROTEIN B-100; APOLIPOPROTEIN B-48; CELL LINE, TRANSFORMED; CELL SEPARATION; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FLOW CYTOMETRY; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; ITALY; LEUKOCYTES, MONONUCLEAR; MUTATION; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES;

EID: 77953232939     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.11.051     Document Type: Article

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