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References

These sources were used to develop the Genetics Home Reference gene summary on the APOB gene.

Benn M, Nordestgaard BG, Jensen JS, Grande P, Sillesen H, Tybjaerg-Hansen A. Polymorphism in APOB associated with increased low-density lipoprotein levels in both genders in the general population. J Clin Endocrinol Metab. 2005 Oct;90(10):5797-803. Epub 2005 Jul 19. PubMed citation
Entrez Gene
Fouchier SW, Sankatsing RR, Peter J, Castillo S, Pocovi M, Alonso R, Kastelein JJ, Defesche JC. High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent. J Med Genet. 2005 Apr;42(4):e23. PubMed citation
Hooper AJ, van Bockxmeer FM, Burnett JR. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci. 2005;42(5-6):515-45. Review. PubMed citation
Olofsson SO, Borèn J. Apolipoprotein B: a clinically important apolipoprotein which assembles atherogenic lipoproteins and promotes the development of atherosclerosis. J Intern Med. 2005 Nov;258(5):395-410. Review. PubMed citation
Schonfeld G, Lin X, Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci. 2005 Jun;62(12):1372-8. Review. PubMed citation
Soufi M, Sattler AM, Maerz W, Starke A, Herzum M, Maisch B, Schaefer JR. A new but frequent mutation of apoB-100-apoB His3543Tyr. Atherosclerosis. 2004 May;174(1):11-6. PubMed citation
Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis. 2007 Dec;195(2):e19-27. Epub 2007 Jun 14. Review. PubMed citation
Tarugi P, Averna M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem. 2011;54:81-107. Review. PubMed citation
van Aalst-Cohen ES, Jansen AC, de Jongh S, de Sauvage Nolting PR, Kastelein JJ. Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia. Semin Vasc Med. 2004 Feb;4(1):31-41. Review. PubMed citation
Vrablík M, Ceska R, Horínek A. Major apolipoprotein B-100 mutations in lipoprotein metabolism and atherosclerosis. Physiol Res. 2001;50(4):337-43. Review. PubMed citation


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