Gene Locus : human-PNLIP
Mode of mutation : Natural mutant
Disease : Congenital absence of pancreatic lipase
Summary : Natural mutation Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757
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 : W419X p. Trp419Ter c.1257G>A A 3-year-old girl presented with abundant greasy diarrhea started at the age of 2 years. Homozygous mutation
| Title : Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency - Lin_2023_Pancreatology_S1424-3903_01834 |
| Author(s) : Lin J , Matiwala N , Curry GE , Wilhelm SJ , Cassidy BM , Lowe ME , Xiao X |
| Ref : Pancreatology , : , 2023 |
| Abstract : Lin_2023_Pancreatology_S1424-3903_01834 |
| ESTHER : Lin_2023_Pancreatology_S1424-3903_01834 |
| PubMedSearch : Lin_2023_Pancreatology_S1424-3903_01834 |
| PubMedID: 37926600 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study - Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| Author(s) : Kamal NM , Saadah OI , Alheraiti SS , Attar R , Alsufyani AD , El-Shabrawi MHF , Sherief LM |
| Ref : Ther Adv Chronic Dis , 13 :20406223221078757 , 2022 |
| Abstract : Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| ESTHER : Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| PubMedSearch : Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| PubMedID: 35284057 |
| Gene_locus related to this paper: human-PNLIP |