Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)
Open Access
- 14 January 2011
- journal article
- research article
- Published by Springer Nature in Orphanet Journal of Rare Diseases
- Vol. 6 (1), 1
- https://doi.org/10.1186/1750-1172-6-1
Abstract
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.Keywords
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