Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia

Current Opinion in Lipidology

Volumn 28, Issue 2, 2017, Pages 120-129

  Bourbon, Mafalda ^a,b   Alves, Ana C ^a,b   Sijbrands, Eric J ^c  

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

^b UNIVERSITY OF LISBON   (Portugal)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

functional studies; LDL receptor activity; LDLR gene; patient diagnosis

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN;

FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; LUCIFERASE ASSAY; MUTATIONAL ANALYSIS; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; REVIEW; RNA SPLICING; GENETICS; METABOLISM; MUTATION;

HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; MUTATION;

EID: 85011857392     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0000000000000404     Document Type: Review

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