TY - JOUR AU - Georges, Amandine AU - Bonneau, Jessica AU - Bonnefont-Rousselot, Dominique AU - Champigneulle, Jacqueline AU - Rabès, Jean P. AU - Abifadel, Marianne AU - Aparicio, Thomas AU - Guenedet, Jean C. AU - Bruckert, Eric AU - Boileau, Catherine AU - Morali, Alain AU - Varret, Mathilde AU - Aggerbeck, Lawrence P. AU - Samson-Bouma, Marie E. PY - 2011 DA - 2011/01/14 TI - Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) JO - Orphanet Journal of Rare Diseases SP - 1 VL - 6 IS - 1 AB - 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. SN - 1750-1172 UR - https://doi.org/10.1186/1750-1172-6-1 DO - 10.1186/1750-1172-6-1 ID - Georges2011 ER -