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 :
c.899-921dup p.(Asn308GlyfsX4)
| Title : A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One-Year Follow-Up on Lipid Profile and Growth Development - Liu_2026_Clin.Case.Rep_14_e73207 |
| Author(s) : Liu J , Meng X , Wu Y , Huang G , Liang S |
| Ref : Clin Case Rep , 14 :e73207 , 2026 |
| Abstract : |
| PubMedSearch : Liu_2026_Clin.Case.Rep_14_e73207 |
| PubMedID: 42542736 |
| Gene_locus related to this paper: human-LPL |
| Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__ |
| Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| Gene_locus related to this paper: human-LPL |