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Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 2, pp. 80 - 84
Journal Article
JAMA, The Journal of the American Medical Association, ISSN 0098-7484, 03/2015, Volume 313, Issue 10, p. 1029
Journal Article
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 2016
Abstract Background Familial hypercholesterolaemia (FH) leads to premature coronary artery disease (CAD) and aortic stenosis, with undertreated severe forms... 
Cardiovascular
Journal Article
Annals of Internal Medicine, ISSN 0003-4819, 02/2019, Volume 170, Issue 3, pp. 211 - 213
Abetalipoproteinemia is a rare, autosomal recessive disorder that requires mutations in both alleles of the gene for microsomal triglyceride transfer protein... 
MEDICINE, GENERAL & INTERNAL | Proteins | Triglycerides | Genetic disorders | Mutation | Medical diagnosis | Oils & fats | Genetics | Digestive system
Journal Article
European Heart Journal, ISSN 0195-668X, 2014, Volume 35, Issue 32, pp. 2146 - 2157
Journal Article
Journal Article
Journal Article
Human mutation, ISSN 1059-7794, 2005, Volume 26, Issue 6, pp. 550 - 556
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 2010, Volume 4, Issue 5, pp. 338 - 341
Journal Article