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chylomicron retention disease
MIM.607689 MIM.246700 5q31.1
Monday 13 December 2004
Etiology
mutation in the SARA2 gene (MIM.607690).
Differential diagnosis
abetalipoproteinemia (MIM.200100)
- no acanthocytosis nor neuroocular symptoms occur
- low-density lipoproteins are present in the plasma
See also
Andrson disease
