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 : c.507-1G>A IVS4-1G>A Italy
| Title : Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease - Gaeta_2008_Skeletal.Radiol_37_1053 |
| Author(s) : Gaeta M , Minutoli F , Toscano A , Celona A , Musumeci O , Racchiusa S , Mazziotti S |
| Ref : Skeletal Radiol , 37 :1053 , 2008 |
| Abstract : Gaeta_2008_Skeletal.Radiol_37_1053 |
| ESTHER : Gaeta_2008_Skeletal.Radiol_37_1053 |
| PubMedSearch : Gaeta_2008_Skeletal.Radiol_37_1053 |
| PubMedID: 18682927 |
| 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 |