Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing

Journal of Internal Medicine

Volumn 276, Issue 4, 2014, Pages 396-403

  Maglio, C ^a   Mancina, R M ^a,b   Motta, B M ^a,c   Stef, M ^d   Pirazzi, C ^a   Palacios, L ^d   Askaryar, N ^a   Boren J ^a   Wiklund, O ^a   Romeo, S ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d Progenika Biopharma SA   (Spain)

Author keywords

Familial hypercholesterolaemia; Genetic diagnosis; LDL receptor; Next generation sequencing; Pyrosequencing

Indexed keywords

ADAPTOR PROTEIN; APOLIPOPROTEIN B; EZETIMIBE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; KEXIN; LOW DENSITY LIPOPROTEIN RECEPTOR; LDLRAP1 PROTEIN, HUMAN; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN B GENE; ARTICLE; CARDIOVASCULAR DISEASE; COPY NUMBER VARIATION; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRON; LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTER PROTEIN 1 GENE; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PATHOGENICITY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9 GENE; RECEPTOR GENE; SEQUENCE ALIGNMENT; SPLICING DEFECT; SWEDEN; VERY ELDERLY; XANTHOMA; YOUNG ADULT; DNA SEQUENCE; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; APOLIPOPROTEINS B; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES;

EID: 84914150662     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/joim.12263     Document Type: Article

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