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 : NOVEMBER-15-2006
Comment :
p.R312X p.Arg312Ter c.C934T ichthyosis, liver cirrhosis, and a hearing impairment. Compound heterozygote with c.616_647delinsGGG
| Title : From blood smear to lipid disorder: a case report - Elitzur_2013_J.Pediatr.Hematol.Oncol_35_e329 |
| Author(s) : Elitzur S , Yacobovich J , Dgany O , Krasnov T , Rosenbach Y , Tamary H |
| Ref : J Pediatr Hematol Oncol , 35 :e329 , 2013 |
| Abstract : |
| PubMedSearch : Elitzur_2013_J.Pediatr.Hematol.Oncol_35_e329 |
| PubMedID: 23042024 |
| Title : Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome - Pujol_2005_Br.J.Dermatol_153_838 |
| Author(s) : Pujol RM , Gilaberte M , Toll A , Florensa L , Lloreta J , Gonzalez-Ensenat MA , Fischer J , Azon A |
| Ref : Br J Dermatol , 153 :838 , 2005 |
| Abstract : |
| PubMedSearch : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedID: 16181472 |
| Gene_locus related to this paper: human-ABHD5 |