Postprandial hypertriglyceridaemia in patients with Tangier disease
Journal Title: Clinical Molecular Pathology - Year 2003, Vol 56, Issue 12
Abstract
This patient (fig 1​1, , V10), the proband, has been described previously.17 She is a 34 year old woman who initially presented with anaemia. Clinical examination only revealed mild hepatosplenomegaly. No enlarged tonsils, pathological lymph nodes, peripheral neuropathy or atherosclerosis were present. Her lipid profile was typical of TD (table 1​1). ). DNA analysis revealed a new null mutation (C2033A) in both alleles, causing a premature stop codon at the amino acid residue 573, which resulted in truncation of the ABCA1 protein.
Authors and Affiliations
G Kolovou, D Daskalova, K Anagnostopoulou, I Hoursalas, V Voudris, D P Mikhailidis, D V Cokkinos
Keywords
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- EP ID EP679625
- DOI 10.1136/jcp.56.12.937
- Views 47
- Downloads 0
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