Gene Locus : human-SPG21
Mode of mutation : Natural mutant
Disease : Mast 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.F40EfsX27 p.Phe40GlufsTer27 homozygous single base deletion c.118delC. first Italian family with SPG21 Cognitive decline prevailing on spastic paraparesis component
| Title : Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21 - |
| Author(s) : Scarlato M , Citterio A , Barbieri A , Godi C , Panzeri E , Bassi MT |
| Ref : Journal of Neurology , 264 :2021 , 2017 |
| PubMedID: 28752238 |
| Gene_locus related to this paper: human-SPG21 |