Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia

Author:

Ohta Naotaka,Hori Mika,Takahashi Atsushi,Ogura Masatsune,Makino Hisashi,Tamanaha Tamiko,Fujiyama Hiromi,Miyamoto Yoshihiro,Harada-Shiba Mariko

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference37 articles.

1. Familial hypercholesterolemia;Goldstein,2001

2. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan;Mabuchi;Atherosclerosis,2011

3. Mechanisms of disease: genetic causes of familial hypercholesterolemia;Soutar;Nat Clin Pract Cardiovasc Med,2007

4. Clinical features and genetic analysis of autosomal recessive hypercholesterolemia;Harada-Shiba;J Clin Endocrinol Metab,2003

5. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia;Innerarity;J Lipid Res,1990

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