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References

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

Defesche JC. Low-density lipoprotein receptor--its structure, function, and mutations. Semin Vasc Med. 2004 Feb;4(1):5-11. Review. PubMed citation
Entrez Gene
Goldstein JL, Brown MS. Molecular medicine. The cholesterol quartet. Science. 2001 May 18;292(5520):1310-2. PubMed citation
Jeon H, Blacklow SC. Structure and physiologic function of the low-density lipoprotein receptor. Annu Rev Biochem. 2005;74:535-62. Review. PubMed citation
Kong WJ, Liu J, Jiang JD. Human low-density lipoprotein receptor gene and its regulation. J Mol Med (Berl). 2006 Jan;84(1):29-36. Epub 2005 Nov 16. Review. PubMed citation
Marais AD, Firth JC, Blom DJ. Homozygous familial hypercholesterolemia and its management. Semin Vasc Med. 2004 Feb;4(1):43-50. Review. PubMed citation
Ueda M. Familial hypercholesterolemia. Mol Genet Metab. 2005 Dec;86(4):423-6. 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

Reviewed: March 2007

Published: May 20, 2013