Molecular characterization of familial hypercholesterolemia in Spain

Atherosclerosis

Volumn 221, Issue 1, 2012, Pages 137-142

  Palacios, Lourdes ^a   Grandoso, Laura ^a   Cuevas, Nerea ^a   Olano Martín, Estíbaliz ^a   Martinez, Antonio ^a   Tejedor, Diego ^a   Stef, Marianne ^a  

^a Progenika Biopharma SA   (Spain)

Author keywords

Dutch Lipid Clinic Network (DLCN) score; Familial hypercholesterolemia; Genetic diagnosis; Low density lipoprotein receptor; Mutations

Indexed keywords

APOLIPOPROTEIN B; KEXIN; LOW DENSITY LIPOPROTEIN RECEPTOR; SUBTILISIN;

ARTICLE; COPY NUMBER VARIATION; DNA EXTRACTION; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCATION; GENETIC CODE; GENETIC HETEROGENEITY; HUMAN; MALE; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPAIN;

ANALYSIS OF VARIANCE; APOLIPOPROTEINS B; DNA COPY NUMBER VARIATIONS; EXONS; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; SEVERITY OF ILLNESS INDEX; SPAIN;

EID: 84857035544     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2011.12.021     Document Type: Article

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