Title : Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis - Saika_2003_Eur.J.Clin.Invest_33_216 |
Author(s) : Saika Y , Sakai N , Takahashi M , Maruyama T , Kihara S , Ouchi N , Ishigami M , Hiraoka H , Nakamura T , Yamashita S , Matsuzawa Y |
Ref : European Journal of Clinical Investigation , 33 :216 , 2003 |
Abstract :
BACKGROUND: Patients with lipoprotein lipase (LPL) deficiency had been generally thought to be spared accelerated atherosclerosis in spite of a marked elevation of plasma triglyceride levels. However, it has been recently reported that some heterozygous and homozygous LPL-deficient patients are associated with premature atherosclerosis. In this paper, we report a 55-year-old type I hyperlipidaemic patient with a novel missense mutation in the LPL gene. PATIENT AND |
PubMedSearch : Saika_2003_Eur.J.Clin.Invest_33_216 |
PubMedID: 12641539 |
Gene_locus related to this paper: human-LPL |
Mutation | L303F_human-LPL |
Gene_locus | human-LPL |
Saika Y, Sakai N, Takahashi M, Maruyama T, Kihara S, Ouchi N, Ishigami M, Hiraoka H, Nakamura T, Yamashita S, Matsuzawa Y (2003)
Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis
European Journal of Clinical Investigation
33 :216
Saika Y, Sakai N, Takahashi M, Maruyama T, Kihara S, Ouchi N, Ishigami M, Hiraoka H, Nakamura T, Yamashita S, Matsuzawa Y (2003)
European Journal of Clinical Investigation
33 :216