J.L.GoldsteinH.H.HobbsM.S.BrownFamilial hypercholesterolemia. In: C.R.ScriverA.L.BeaudetW.S.Sly (eds). The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill, 2001, pp. 2863–2913.
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein
H.H.HobbsD.W.RussellM.S.Brown. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet1990; 24: 133–170.
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society
B.G.NordestgaardM.J.ChapmanS.E.Humphries. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. Eur Heart J2013; 34: 3478–3490.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Do R, Stitziel NO, Won H, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 2014; 518: 102–106