Associated Papers
Familial hypercholesterolemia in Southeast and East Asia.
Jackson CL et al.
American Journal of Preventive Cardiology, 2021
34327494 (PubMed )
Supplement: mmc1.docx
Monozygotic twins with familial hypercholesterolemia and high lipoprotein(a) levels leading to identical cardiovascular outcomes: Case report and review of the literature.
Kayıkçıoğlu M et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2020
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
Effect of Statin Therapy in 4-Year-Old Dichorionic Diamniotic Twins with Familial Hypercholesterolemia Showing Multiple Xanthomas.
Miyagi Y et al.
Journal of Atherosclerosis and Thrombosis, 2016
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Han SM et al.
Plos One, 2015
Familial hypercholesterolemia with multiple large tendinous xanthomas and advanced coronary artery atherosclerosis.
Terasaki F et al.
Internal Medicine (tokyo, Japan), 2013
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
Al-Khateeb A et al.
Bmc Medical Genetics, 2011
An 11-year-old boy with familial hypercholesterolemia showing multiple xanthomas and advanced atherosclerosis, who responded to lipid-lowering therapy using statin.
Ohshiro T et al.
Journal of Atherosclerosis and Thrombosis, 2010
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
Miyake Y et al.
Atherosclerosis, 2009
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
Maruyama T et al.
Journal of Atherosclerosis and Thrombosis, 2004
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.
Hattori H et al.
Human Mutation, 1999
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