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 : Two siblings were compound heterozygous for the missense variant in LIPA exon 8, c.894G>A, (p.Gln298Gln) and a single base pair deletion, c.482del (p.Asn161Ilefs*19)
| Title : Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature - Rashu_2020_World.J.Clin.Cases_8_1642 |
| Author(s) : Rashu EB , Junker AE , Danielsen KV , Dahl E , Hamberg O , Borgwardt L , Christensen VB , Wewer Albrechtsen NJ , Gluud LL |
| Ref : World J Clin Cases , 8 :1642 , 2020 |
| Abstract : Rashu_2020_World.J.Clin.Cases_8_1642 |
| ESTHER : Rashu_2020_World.J.Clin.Cases_8_1642 |
| PubMedSearch : Rashu_2020_World.J.Clin.Cases_8_1642 |
| PubMedID: 32432142 |
| Gene_locus related to this paper: human-LIPA |