Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: Integration and evolution of genetic diagnosis

Nutrition, Metabolism and Cardiovascular Diseases

Volumn 25, Issue 11, 2015, Pages 979-987

  Di Taranto, M D ^a   D'Agostino, M N ^b   Fortunato, G ^b,c  

^a IRCCS SDN   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

Author keywords

APOB; Diagnostic tools; Familial hypercholesterolemia; Functional assay; LDLR; Mutation pathogenicity; PCSK9

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR; MUTANT PROTEIN; SERINE PROTEINASE; SUBTILISIN; APOB PROTEIN, HUMAN; APOLIPOPROTEIN B100; PCSK9 PROTEIN, HUMAN;

APOB GENE; AUTOSOMAL DOMINANT DISORDER; FAMILIAL HYPERCHOLESTEROLEMIA; FUNCTIONAL GENOMICS; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; LDLR GENE; PATHOGENICITY; PCSK9 GENE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; RNA SPLICING; TRANSCRIPTION REGULATION; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; PROCEDURES;

APOLIPOPROTEIN B-100; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES;

EID: 84960495405     PISSN: 09394753     EISSN: 15903729     Source Type: Journal    
DOI: 10.1016/j.numecd.2015.06.007     Document Type: Review

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