Article
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
Molecular genetics and metabolism - 1 Jan 2008
Charcosset Mathilde, Sassolas Agnès, Peretti Noël, Roy Claude C, Deslandres Colette, Sinnett Daniel, Levy Emile, Lachaux Alain
Abstract excerpt
Anderson disease (and/or chylomicron retention disease-CMRD) is a rare, autosomic recessive disorder characterized by chronic diarrhea, failure to thrive, and hypocholesterolemia in childhood. The specific molecular defect was identified in 2003 and consists of mutations in the SAR1B gene which encodes for intracellular Sar1b protein. To date, only 8 mutations in six families have been described. We report here...
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