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.32dup p.(Ala12Glyfs*29) heterozygous single-nucleotide duplication in exon 1 of the LPL gene, c.32dup
| Title : Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date - Zhang_2023_Lipids.Health.Dis_22_128 |
| Author(s) : Zhang G , Hu Y , Yang Q , Pu N , Li G , Zhang J , Tong Z , Masson E , Cooper DN , Chen JM , Li W |
| Ref : Lipids Health Dis , 22 :128 , 2023 |
| Abstract : |
| PubMedSearch : Zhang_2023_Lipids.Health.Dis_22_128 |
| PubMedID: 37568214 |
| Gene_locus related to this paper: human-LPL |