Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11033-008-9416-z.pdf
Reference21 articles.
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2. Jelassi A, Najah M, Jguirim I et al (2008) A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family. Clin Chim Acta 392(1–2):25–29
3. Pandit S, Wisniewski D, Santoro JC et al (2008) Functional analysis of sites within PCSK9 responsible for hypercholesterolemia. J Lipid Res 49(6):1333–1343
4. Bourbon M, Alves AC, Medeiros AM et al (2008) Familial hypercholesterolaemia in Portugal. Atherosclerosis 196(2):633–642
5. Austin MA, Hutter CM, Zimmern RL et al (2004) Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review. Am J Epidemiol 160(5):407–420
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