Associated Papers
Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Wakabayashi T et al.
Journal of Atherosclerosis and Thrombosis, 2024
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
31653860 (PubMed )
Supplement: 41467_2019_12869_MOESM3_ESM.xlsx › Testing_Cohort_Variants
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-3.xlsx › Sheet1
Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
Balder JW et al.
Circulation, 2018
29459468 (PubMed )
Supplement: circ_circulationaha-2017-032479_supp1.pdf
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
Cefalù AB et al.
Atherosclerosis, 2015
Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.
Leren TP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.
Fouchier SW et al.
Journal of Medical Genetics, 2005
Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.
Hooper AJ et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
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