Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene

Molecular Genetics and Metabolism

Volumn 92, Issue 3, 2007, Pages 243-248

  Quagliarini, Fabiana ^a   Vallvé, Joan Carles ^b   Campagna, Filomena ^a   Alvaro, Adriana ^b   Fuentes Jimenez, Francisco José ^c   Sirinian, Maria Isabella ^a   Meloni, Francesca ^a   Masana, Luis ^b   Arca, Marcello ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b INSTITUT D INVESTIGACIÓ SANITÀRIA PERE VIRGILI IISPV   (Spain)

^c HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

Author keywords

ARH protein; Autosomal recessive hypercholesterolemia; Deletions; Genetic hypercholesterolemia

Indexed keywords

AMINO ACID DERIVATIVE; ATORVASTATIN; COLESTYRAMINE; EZETIMIBE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; MEVINOLIN; SIMVASTATIN; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; ARH GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHOLESTEROL METABOLISM; CODON; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HUMAN; HYPERCHOLESTEROLEMIA; IN VIVO STUDY; INTRON; LIPID BLOOD LEVEL; LIPOLYSIS; LOW DRUG DOSE; MALE; POINT MUTATION; PRIORITY JOURNAL; RECESSIVE GENE; UMBILICAL CORD BLOOD; WESTERN BLOTTING;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; DNA PRIMERS; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; LYMPHOCYTES; MALE; PEPTIDE FRAGMENTS; RECEPTORS, LDL; SEQUENCE DELETION;

EID: 34848910752     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.06.012     Document Type: Article

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