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.R116P Arg116Pro a newborn a novel compound heterozygous mutation (c.347 G>C and c.472 T>G) both Y158Dd and R116P
Title : Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases - Wu_2021_BMC.Pediatr_21_414 |
Author(s) : Wu YQ , Hu YY , Li GN |
Ref : BMC Pediatr , 21 :414 , 2021 |
Abstract : Wu_2021_BMC.Pediatr_21_414 |
ESTHER : Wu_2021_BMC.Pediatr_21_414 |
PubMedSearch : Wu_2021_BMC.Pediatr_21_414 |
PubMedID: 34544385 |
Gene_locus related to this paper: human-LPL |