Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

@inproceedings{Georges2011MolecularAA,
  title={Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)},
  author={Amandine Georges and Jessica Bonneau and Dominique Bonnefont-Rousselot and Jacqueline Champigneulle and Jean Pierre Rab{\`e}s and Marianne Abifadel and T. Quevedo Aparicio and Jean C Guenedet and Eric Bruckert and Catherine Boileau and Alain Morali and Mathilde Varret and Lawrence P. Aggerbeck and Marie-Elisabeth Samson-Bouma},
  booktitle={Orphanet journal of rare diseases},
  year={2011}
}
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 PCSK9 genes were sequenced. The expression of the SAR1B and SAR1A genes in… CONTINUE READING
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