Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia
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چکیده
منابع مشابه
Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia.
Familial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junctions. We present a simple assay based on PCR and denaturing gradient gel electrophoresis, which allo...
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With High Plasma Levels of Apolipoprotein CII To the Editor: Human apolipoprotein CII (apo CII) consists of 79 amino acid residues and is required as a cofactor in the hydrolysis of triacylglycerides of chylomicrons and VLDL by lipoprotein lipase.1,2 Familial apo CII deficiency is an autosomal recessive genetic disorder characterized by fasting hypertriglyceridemia and an accumulation of chylom...
متن کاملResistant hypertriglyceridemia in a patient with high plasma levels of apolipoprotein CII.
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 1998
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/44.7.1388