Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations
نویسندگان
چکیده
منابع مشابه
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing. Patient 2 has a nonsense ...
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Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
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متن کاملOriginal Article Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene (lipoprotein lipase deficiency / hypertriglyceridaemia / hypercholesterolaemia / hepatosplenomegaly / acute pancreatitis / lipaemia retinalis)
Abbreviations: CM – chylomicrons, GPIHBP1 – glycosylphosphatidylinositol anchored-HDL-binding protein 1, HC – hypercholesterolaemia, HDL – high-density lipoprotein, HTG – hypertriglyceridaemia, LPL – lipoprotein lipase, MCT – medium-chain triglyceride, SNP – single-nucleotide polymorphism, TG – triglycerides, VLDL – very low-density lipoproteins. Abstract. Lipoprotein lipase (LPL) deficiency, c...
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ژورنال
عنوان ژورنال: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine
سال: 2008
ISSN: 0004-5632,1758-1001
DOI: 10.1258/acb.2007.007080