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.V225CfsX4 p.Val225CysfsTer4 c.673delG p.V225Cfs abbrogates 120 last residues of the protein found Italy Bruno et al.
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 |