Lipoprotein lipase deficiency
OMIM:238600Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | LPL |
|---|---|
| Reference transcript | NM_000237.2 |
| DNA Change | c.858T>A |
| A.A. Change | p.Ser286Arg |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M.A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry. Hum Mutat. 1997;10(3):179-85. |
| Gene Symbol | LPL |
|---|---|
| Reference transcript | NM_000237.2 |
| DNA Change | c.858T>A |
| A.A. Change | p.Ser286Arg |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Bouabdellah M, Iraqi H, Benlian P, Berqia I, Benchekroun L, Chraïbi A, Chabraoui L.Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family. Ann Biol Clin (Paris). 2015 Jun 24. [Epub ahead of print] |