Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL 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.Y548X Tyr548Ter c.1644T>G:Homozygous mutation
| Title : The clinical syndrome of dystonia with anarthria\/aphonia - Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| Author(s) : Ganos C , Crowe B , Stamelou M , Kresojevic N , Lukic MJ , Bras J , Guerreiro R , Taiwo F , Balint B , Batla A , Schneider SA , Erro R , Svetel M , Kostic V , Kurian MA , Bhatia KP |
| Ref : Parkinsonism Relat Disord , 24 :20 , 2016 |
| Abstract : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| ESTHER : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| PubMedSearch : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| PubMedID: 26924602 |
| Gene_locus related to this paper: human-SERAC1 |