Article
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
Clinical genetics - 1 Dec 2008
Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué J M, Walker F, Schmitz J, Lachaux A, Aggerbeck L P, Samson-Bouma M E
Abstract excerpt
Anderson's disease (AD) or chylomicron retention disease (CMRD) is a rare hereditary lipid malabsorption syndrome linked to SARA2 gene mutations. We report in this study a novel mutation in two sisters for which the Sar1b protein is predicted to be truncated by 32 amino acids at its carboxyl-term...
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