Chylomicron retention disease
OMIM:246700Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | SAR1B |
|---|---|
| Reference transcript | NM_016103.3 |
| DNA Change | c.75_76delTG |
| A.A. Change | L28fsX34 |
| Exon/Intron | exon3 |
| Mutation Type | deletion |
| Reference | Cefalu AB, Calvo PL, Noto D, Baldi M, Valenti V, Lerro P, Tramuto F, Lezo A, Morra I, Cenacchi G, Barbera C, Averna MR.Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. Metabolism. 2010 Apr;59(4):463-7. |