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.H251P His251Pro C752A. A child homozygous presented ichthyosis, developmental delay, and steatohepatitis with cirrhosis
| Title : Chanarin-Dorfman syndrome with rare renal involvement - |
| Author(s) : Verma SB , Mittal A , Wollina U , Eckstein GH , Gohel K , Giehl K |
| Ref : Br J Dermatol , 176 :545 , 2017 |
| PubMedID: 27858988 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation - Srinivasan_2004_J.Pediatr_144_662 |
| Author(s) : Srinivasan R , Hadzic N , Fischer J , Knisely AS |
| Ref : J Pediatr , 144 :662 , 2004 |
| Abstract : |
| PubMedSearch : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedID: 15127008 |
| Gene_locus related to this paper: human-ABHD5 |