Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease.

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Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease.

A 60-yr-old woman and her brother, products of a consanquinous mating, were chylomicronemic. The chylomicronemia in both subjects was found to be due to the absence of functional apoCII. A mutant form, designated apoCIISt. Michael (apoCIIs), was identified by two-dimensional electrophoresis and Western blot using anti-apoCII antiserum. The isoelectric point of apoCIIs was similar to that of nor...

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Severe xanthomatosis associated with familial apolipoprotein E deficiency.

AIM To present the clinical, dermatological, and histological features of a patient with generalised xanthomatosis, familial apolipoprotein (apo) E deficiency, and unusual type III hyperlipoproteinaemia (HLP). METHODS The underlying molecular defect was disclosed using molecular biological techniques. The unusual xanthomas were histologically analysed and the morphology of the abnormal lipopr...

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Apolipoprotein A-IZavalla (Leu1593Pro) HDL Cholesterol Deficiency in a Kindred Associated With Premature Coronary Artery Disease

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Familial apolipoprotein E deficiency and type Ill hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene

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Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 1987

ISSN: 0021-9738

DOI: 10.1172/jci113246