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Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
Affiliation:1. Department of Molecular and Clinical Medicine, University of Gothenburg, Gothenburg, Sweden;2. Clinical Nutrition Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy;3. Cardiology Department, Sahlgrenska University Hospital, Gothenburg, Sweden;4. Internal Medicine, Fondazione IRCCS Ca'' Granda Ospedale Policlinico Milano, Milan, Italy;5. Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy;6. Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Ullevaal, Oslo, Norway;7. Department of Nutrition, Institute for Basic Medical Sciences, University of Oslo, Oslo, Norway;8. Lipid Clinic, Oslo University Hospital, Rikshospitalet, Oslo, Norway
Abstract:
Keywords:Type 1 hyperlipoproteinemia  Hypertriglyceridemia  Missense and frameshift mutations  Familial lipoprotein lipase deficiency (FLD)  Hyperchylomicronemia
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