Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.L303F Leu303Phe (Leu276Phe L276F in the mature protein) approximatively 6\% of normal activity
| Title : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T |
| Ref : J Atheroscler Thromb , 11 :131 , 2004 |
| Abstract : |
| PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedID: 15256764 |
| 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 : |
| PubMedSearch : Saika_2003_Eur.J.Clin.Invest_33_216 |
| PubMedID: 12641539 |
| Gene_locus related to this paper: human-LPL |