Associated Papers
Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Auclair N et al.
Journal of Lipid Research, 2021
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Peretti N et al.
Orphanet Journal of Rare Diseases, 2010
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
Charcosset M et al.
Molecular Genetics and Metabolism, 2008
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Jones B et al.
Nature Genetics, 2003
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