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 : JANUARY-09-2004
Comment : p.R184X Arg184Ter c.G552A found homozygous in three patients Bruno et al.
| Title : Living donor liver transplantation for Dorfman-Chanarin syndrome with 1 year follow-up: case report - Takeda_2010_Transplant.Proc_42_3858 |
| Author(s) : Takeda K , Tanaka K , Kumamoto T , Morioka D , Endo I , Togo S , Shimada H |
| Ref : Transplant Proc , 42 :3858 , 2010 |
| Abstract : Takeda_2010_Transplant.Proc_42_3858 |
| ESTHER : Takeda_2010_Transplant.Proc_42_3858 |
| PubMedSearch : Takeda_2010_Transplant.Proc_42_3858 |
| PubMedID: 21094870 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome. - Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| Author(s) : Bruno C , Bertini E , Di Rocco M , Cassandrini D , Ruffa G , De Toni T , Seri M , Spada M , Li Volti G , D'Amico A , Trucco F , Arca M , Casali C , Angelini C , Dimauro S , Minetti C |
| Ref : Biochemical & Biophysical Research Communications , 369 :1125 , 2008 |
| Abstract : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| ESTHER : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedSearch : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedID: 18339307 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome - Akiyama_2003_J.Invest.Dermatol_121_1029 |
| Author(s) : Akiyama M , Sawamura D , Nomura Y , Sugawara M , Shimizu H |
| Ref : Journal of Investigative Dermatology , 121 :1029 , 2003 |
| Abstract : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| ESTHER : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedSearch : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedID: 14708602 |
| Gene_locus related to this paper: human-ABHD5 |