Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein
M Charcosset, A Sassolas, N Peretti, CC Roy… - Molecular genetics and …, 2008 - Elsevier
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 15 new cases of
CMRD among 8 families from France and Canada. We identified three unique homozygous …
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 15 new cases of
CMRD among 8 families from France and Canada. We identified three unique homozygous …