Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
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 :
rs116928232, c.894G>A\; (p.Gln298=)] an exon 8 splice junction variant E8SJM) p.Ser275_Gln298del
| Title : Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico - Hernandez-Orozco_2024_J.Clin.Lab.Anal_38_e25083 |
| Author(s) : Hernandez-Orozco AA , Melendez-Aranda L , Mendoza-Ruvalcaba SDC , Perea-Diaz FJ , Cebolla JJ , Giraldo P , Brambila-Tapia AJL , Garcia-Ortiz JE |
| Ref : J Clin Lab Anal , :e25083 , 2024 |
| Abstract : |
| PubMedSearch : Hernandez-Orozco_2024_J.Clin.Lab.Anal_38_e25083 |
| PubMedID: 39105399 |
| Gene_locus related to this paper: human-LIPA |
| Title : Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia - Ashfield-Watt_2019_Ann.Clin.Biochem_56_112 |
| Author(s) : Ashfield-Watt P , Haralambos K , Edwards R , Townsend D , Gingell R , Wa Li K , Humphries SE , McDowell I |
| Ref : Annals of Clinical Biochemistry , 56 :112 , 2019 |
| Abstract : |
| PubMedSearch : Ashfield-Watt_2019_Ann.Clin.Biochem_56_112 |
| PubMedID: 30056760 |
| Gene_locus related to this paper: human-LIPA |
| Title : Identification and metabolic profiling of patients with lysosomal acid lipase deficiency - Pullinger_2015_J.Clin.Lipidol_9_716 |
| Author(s) : Pullinger CR , Stock EO , Movsesyan I , Malloy MJ , Frost PH , Tripuraneni R , Quinn AG , Ishida BY , Schaefer EJ , Asztalos BF , Kane JP |
| Ref : J Clin Lipidol , 9 :716 , 2015 |
| Abstract : |
| PubMedSearch : Pullinger_2015_J.Clin.Lipidol_9_716 |
| PubMedID: 26350820 |
| Gene_locus related to this paper: human-LIPA |