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FH4=STAP1. Another gene for familial hypercholesterolemia? Relevance to cascade testing and drug development?
Circ Res
August 2014
From Bristol Genetics Epidemiology Laboratories, School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom.
Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
Circ Res
August 2014
From the Department of Experimental Vascular Medicine (S.W.F., J.C.M.M., J.C.D.), Department of Vascular Medicine (S.W.F., G.M.D.-T., J.J.P.K., G.K.H.), and Department of Medical Biochemistry (S.W.F., N.Z.), Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; and Department of Plasma Proteins, Sanquin Research, Amsterdam, The Netherlands (J.C.M.M.).
Rationale: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease. ADH is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B, or proprotein convertase subtilisin/kexin 9. A number of patients, however, suffer from familial hypercholesterolemia 4 (FH4), defined as ADH in absence of mutations in these genes and thereafter use the abbreviation FH4.
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