2[2]Heath KE,Gahan M,Whittall RA,et al.Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia:update,new features and mutation analysis[J].Atherosclerosis,2001,154(1):243-246.
3[3]International Panel on Management of Familial Hypercholesterolemia.Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia [J].Atherosclerosis,2004,173(1):55-68.
4[6]Kajinami K.Genotype-phenotype correlations in familial hypercholesterolemia [J].Nippon Rinsho,1999,57(12):2770-2775.
5[7]Koivisto UM,Palvimo JJ,Janne OA,et al.A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia[J].Proc Natl Acad Sci USA,1994,91(22):10526-10530.
6[8]Sun XM,Webb JC,Gudnason V,et al.Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom [J].Arterioscler Thromb,1992,12(7):762-770.
7[10]Sun XM,Patel DD,Webb JC,et al.Familial hypercholesterolemia in China.Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype[J].Arterioscler Thromb,1994,14(1):85-94.