Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.P241S Pro241Ser c.721C>T Compound heterzygote IVS1+2insT
| Title : Genotype-phenotype relationships in patients with type I hyperlipoproteinemia - Chokshi_2014_J.Clin.Lipidol_8_287 |
| Author(s) : Chokshi N , Blumenschein SD , Ahmad Z , Garg A |
| Ref : J Clin Lipidol , 8 :287 , 2014 |
| Abstract : Chokshi_2014_J.Clin.Lipidol_8_287 |
| ESTHER : Chokshi_2014_J.Clin.Lipidol_8_287 |
| PubMedSearch : Chokshi_2014_J.Clin.Lipidol_8_287 |
| PubMedID: 24793350 |
| Gene_locus related to this paper: human-LPL |