Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
详细信息 查看全文
- 作者：Piero Pingitore ; PhDa ; Saverio Massimo Lepore ; PhDb ; Carlo Pirazzi ; MD ; PhDa ; c ; Rosellina Margherita Mancina ; PhDa ; Benedetta Maria Motta ; PhDa ; Luca Valenti ; MDd ; e ; Knut Erik Berge ; MD ; PhDf ; Kjetil Retterstø ; l ; MD ; PhDg ; h ; Trond P. Leren ; MD ; PhDf ; Olov Wiklund ; MD ; PhDa ; c ; 1 ; Stefano Romeo ; MD ; PhDa ; b ; c ; 1 ; stefano.romeo@wlab.gu.se" class="auth_mail" title="E-mail the corresponding author
- 关键词：Type 1 hyperlipoproteinemia ; Hypertriglyceridemia ; Missense and frameshift mutations ; Familial lipoprotein lipase deficiency (FLD) ; Hyperchylomicronemia
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：July-August 2016
- 年：2016
- 卷：10
- 期：4
- 页码：816-823
- 全文大小：934 K
文摘
- •
Two novel mutations in the LPL gene cause type I hyperlipoproteinemia.
- •
A frameshift mutation (p.G256TfsX26) results in a loss of LPL secretion.
- •
A missense mutation (p.M404 R) results in lower LPL secretion and in a loss of LPL activity.