共 176 条
[1]
Soutar AK(2007)Mechanisms of disease: genetic causes of familial hypercholesterolemia Nat Clin Pract Cardiovasc Med 4 214-225
[2]
Naoumova RP(2008)Genetic heterogeneity of autosomal dominant hypercholesterolemia Clin Genet 73 1-3
[3]
Varret M(1992)Molecular genetics of the LDL receptor gene in familial hypercholesterolemia Hum Mutat 1 445-466
[4]
Abifadel M(2004)Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review Am J Epidemiol 160 407-420
[5]
Rabès JP(2000)Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype Arterioscler Thromb Vasc Biol 20 e41-e52
[6]
Boileau C(2013)Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy Atherosclerosis 227 342-348
[7]
Hobbs HH(2014)Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia Atherosclerosis 233 206-210
[8]
Brown MS(2005)Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia Pharmacogenet Genomics 15 219-225
[9]
Goldstein JL(2005)Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia Circulation 112 3168-3173
[10]
Austin MA(2012)Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment Ann Hum Genet 76 387-401