Mechanisms of Disease: genetic causes of familial hypercholesterolemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,General Medicine
Link
http://www.nature.com/articles/ncpcardio0836.pdf
Reference85 articles.
1. Goldstein JL et al. (2001) Familial hypercholesterolemia. In The Metabolic and Molecular Bases of Inherited Disease, edn 8, 2863–2913 (Eds Scriver CS et al.) New York: McGraw-Hill Book Co.
2. Khachadurian AK (1964) The inheritance of essential familial hypercholesterolemia. Am J Med 37: 402–407
3. Arca M et al. (2002) Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet 359: 841–847
4. Naoumova RP et al. (2004) Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment. Atherosclerosis 174: 165–172
5. Naoumova RP et al. (2005) Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response. Arterioscler Thromb Vasc Biol 25: 2654–2660
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