Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
Disease : Chanarin-Dorfman syndrome
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.Gly271Arg c.811G>A 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP) with increasing hyperlipidemia\; hepatomegaly associated with hepatosteatosis
| Title : A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings - Eskiocak_2019_Lipids.Health.Dis_18_232 |
| Author(s) : Eskiocak AH , Missaglia S , Moro L , Durdu M , Tavian D |
| Ref : Lipids Health Dis , 18 :232 , 2019 |
| Abstract : |
| PubMedSearch : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedID: 31883530 |
| Gene_locus related to this paper: human-ABHD5 |