LDLR Variant Databases and Familial Hypercholesterolemia Population Studies

Journal of the American College of Cardiology

Volumn 69, Issue 6, 2017, Pages 754-755

  Andersen, Lars ^a   Estrella, Lisa ^a   Andersen, Rolf ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR; PROPROTEIN CONVERTASE 9;

APOB GENE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC DATABASE; GENETIC VARIABILITY; GENETIC VARIATION; HUMAN; LDLR GENE; LETTER; PATHOGENESIS; PCSK9 GENE; PHENOTYPE; GENETICS; HETEROZYGOTE; HYPERCHOLESTEROLEMIA;

HETEROZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; HYPERLIPOPROTEINEMIA TYPE II; RECEPTORS, LDL;

EID: 85011556655     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2016.09.988     Document Type: Letter

References (4)

1. 1 Khera, A.V., Won, H.-H., Peloso, G.M., et al. Diagnostic yield of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 67 (2016), 2578–2589.
2. 2 Goldberg, A.C., Hopkins, P.N., Toth, P.P., et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 5 (2015), 133–140.
3. 3 Landrum, M.J., Lee, J.M., Benson, M., et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44 (2016), D862–D868.
4. 4 Fokkema, I.F.A.C., Taschner, P.E.M., Schaafsma, G.C.P., et al. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32 (2011), 557–563.