eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | familial lipoprotein lipase deficiency |
| Comorbidity | C0023817|lpl deficiency |
| Sentences | 1 |
| PubMedID- 20650961 | Severe mutations that result in lpl deficiency lead to familial hyperchylomicronaemia (13), whereas common non-synonymous variants rs1801177 (d9n) and rs328 (s447x) have been consistently associated with higher and lower risk of chd, respectively (10). |
Page: 1