Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: Considerations for genetic diagnosis improvement

Genetics in Medicine

Volumn 18, Issue 4, 2016, Pages 316-324

  Medeiros, Ana Margarida ^a,b   Alves, Ana Catarina ^a,b   Bourbon, Mafalda ^a,b  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b UNIVERSITY OF LISBON   (Portugal)

Author keywords

APOB; familial hypercholesterolemia; functional assays; LDLR; PCSK9

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN; PCSK9 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; LDLR PROTEIN, HUMAN; LIPID; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CHILD; COHORT ANALYSIS; DNA FLANKING REGION; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PATHOGENESIS; PATIENT IDENTIFICATION; PHENOTYPE; PORTUGAL; ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; BLOOD; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; HYPERLIPOPROTEINEMIA TYPE II; METABOLISM; MIDDLE AGED; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; APOLIPOPROTEINS B; BIOMARKERS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPIDS; MALE; MIDDLE AGED; MUTATION; PORTUGAL; RECEPTORS, LDL;

EID: 84962489955     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.71     Document Type: Article

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