Article
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).
Orphanet journal of rare diseases - 14 Jan 2011
Georges Amandine, Bonneau Jessica, Bonnefont-Rousselot Dominique, Champigneulle Jacqueline, Rabès Jean P, Abifadel Marianne, Aparicio Thomas, Guenedet Jean C, Bruckert Eric, Boileau Catherine, Morali Alain, Varret Mathilde, Aggerbeck Lawrence P, Samson-Bouma Marie E
Abstract excerpt
BACKGROUND: Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as compared to healthy subjects, of the Sar1 gene and protein paralogues in the intestine, we investigated three previously undescribed individuals with the disease. METHODS: The SAR1B, SAR1A and...
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