Genetics of Familial Hypercholesterolemia

Current Atherosclerosis Reports

Volumn 17, Issue 4, 2015, Pages

  Brautbar, Ariel ^a,b,c   Leary, Emili ^c,d   Rasmussen, Kristen ^c   Wilson, Don P ^a   Steiner, Robert D ^c,e   Virani, Salim ^b  

^a Cook Children’s Medical Center ^*  (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c MARSHFIELD CLINIC   (United States)

^d UNIVERSITY OF WISCONSIN MADISON   (United States)

^e UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Apolipoprotein B (APOB); Autosomal recessive hypercholesterolemia (ARH); Cascade testing; Cerebrotendinous xanthomatosis (CTX); Cholesterol ester storage disease (CESD); Familial defective apolipoprotein B 100 (FDB); Familial hypercholesterolemia (FH); Genetic counseling (GC); LDL receptor adapter protein 1 (LDLRAP1); Low density lipoprotein receptor (LDLR); Penetrance; Proprotein convertase subtilisin kexin type 9 (PCSK9); Sitosterolemia

Indexed keywords

APOLIPOPROTEIN B; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN RECEPTOR; APOB PROTEIN, HUMAN; APOLIPOPROTEIN B100; LDLR PROTEIN, HUMAN; PCSK9 PROTEIN, HUMAN; PHYTOSTEROL; SERINE PROTEINASE;

ADJUVANT THERAPY; APOB GENE; APOE GENE; AUTOSOMAL RECESSIVE DISORDER; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL ESTER STORAGE DISEASE; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HCHOLA 4 GENE; HUMAN; IDOL GENE; LDLR GENE; PCSK9 GENE; PHENOTYPE; PREVALENCE; REVIEW; SITOSTEROLEMIA; STAP 1 GENE; GENETIC PREDISPOSITION; HYPERCHOLESTEROLEMIA; HYPERLIPOPROTEINEMIA TYPE II; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; XANTHOMATOSIS, CEREBROTENDINOUS;

APOLIPOPROTEIN B-100; CHOLESTEROL ESTER STORAGE DISEASE; DIAGNOSIS, DIFFERENTIAL; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; HYPERCHOLESTEROLEMIA; HYPERLIPOPROTEINEMIA TYPE II; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; PHYTOSTEROLS; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84923675709     PISSN: 15233804     EISSN: 15346242     Source Type: Journal    
DOI: 10.1007/s11883-015-0491-z     Document Type: Review

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