IVS4-1G>A_human-ABHD5

General

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"

References (2)

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 : 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