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.188C>T, p. Ser63Phe found as a compound heterozygote c.662T>C p.Ile221Thr I221T
| Title : Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia - Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| Author(s) : Wang S , Cheng Y , Shi Y , Zhao W , Gao L , Fang L , Jin X , Han X , Sun Q , Li G , Zhao J , Xu C |
| Ref : Front Endocrinol (Lausanne) , 13 :874608 , 2022 |
| Abstract : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| ESTHER : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedSearch : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedID: 35923617 |
| Gene_locus related to this paper: human-LPL |