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.S115G Ser115Gly c.343A>G Homozygous in a 18-month-old Turkish girl splenomegaly with congenital non-bullous ichthyosiform erythroderma.
| Title : A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome - |
| Author(s) : Ben Selma Z , Yilmaz S , Schischmanoff PO , Blom A , Ozogul C , Laroche L , Caux F |
| Ref : Journal of Investigative Dermatology , 127 :2273 , 2007 |
| PubMedID: 17495960 |
| Gene_locus related to this paper: human-ABHD5 |