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 : c.851C>T (p.Ser284Phe) variant of unknown significance found homozygous in patients with LAL-D. And also detected in compound heterozygotes with W140X
| Title : A Novel Variant in the LIPA Gene Associated with Distinct Phenotype - Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| Author(s) : Sarajlija A , Armengol L , Maver A , Kitic I , Prokic D , Cehic M , Djuricic MS , Peterlin B |
| Ref : Balkan Journal of Medical Genetics , 25 :93 , 2022 |
| Abstract : Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| ESTHER : Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| PubMedSearch : Sarajlija_2022_Balkan.J.Med.Genet_25_93 |
| PubMedID: 36880034 |
| Gene_locus related to this paper: human-LIPA |