Mutations in Japanese Subjects with Primary Hyperlipidemia<BR>— Results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996

Mutations in Japanese Subjects with Primary Hyperlipidemia
— Results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 —

Published:2004 Issue:3 Volume:11 Page:131-145
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Maruyama Takao¹,Yamashita Shizuya¹,Matsuzawa Yuji²,Bujo Hideaki³,Takahashi Kazuo⁴,Saito Yasushi⁴,Ishibashi Shun⁵,Ohashi Ken⁶,Shionoiri Futoshi⁷,Gotoda Takanari⁸,Yamada Nobuhiro⁹,Kita Toru¹⁰

Affiliation:

1. Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University

2. Sumitomo Hospital

3. Department of Genome Research and Clinical Application, Chiba University Graduate School of Medicine

4. Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine

5. Department of Metabolic Diseases, Jichi Medical School of Medicine

6. Department of Metabolic Diseases, Faculty of Medicine, University of Tokyo

7. Yokosuka Hokubu Kyosai Hospital

8. Diabetes Center, Tokyo Women’s Medical University

9. Division of Endocrinology and Metabolism, Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba

10. Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University

Publisher

Japan Atherosclerosis Society

Subject

Biochemistry, medical,Cardiology and Cardiovascular Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/jat/11/3/11_3_131/_pdf

Reference36 articles.

1. (1) Goldstein JL, Hobbs HH, and Brown MS: Familial hypercholesterolemia. In: The metabolic and molecular bases of inherited disease. 8th Ed, ed by Scriver CR, Beaudet Al, Sly WS, and Valle D, pp 2863−2913, McGraw-Hill, New York, 2001

2. (2) Ishibashi S: Clinical characteristics and mutational analysis in Japanese patients with primary hyperlipidemia. In: Annual report of Research Committee on Primary Hyperlipidemia (Ministry of Health and Welfare of Japan), pp 47−51, 1998 (in Japanese)

3. (3) Maruyama T, Miyake Y, Tajima S, Harada-shiba M, Yamamura T, Tsushima M, Kishino B, Horiguchi Y, Funahashi T, Matsuzawa Y, and Yamamoto A: Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. Arterioscler Thromb Vasc Biol, 15: 1713−1718, 1995

4. (4) Yu W, Nohara A, Higashikata T, Lu H, Inazu A, and Mabuchi H: Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. Atherosclerosis, 165: 335−342, 2002

5. (5) Funahashi T, Yamashita S, Maruyama T, Ueyama Y, Menju M, Nagai Y, Takemura K, Miyake Y, Tajima S and Matsuzawa Y: A compound heterozygote for familial hypercholesterolemia with a homozygous mother. J Intern Med, 239: 187−190, 1996

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