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 : c.153delT\; p.Val52fs) causes a frameshift compound. Two siblings were affected in a family originated from Upper Austria. heterozygous mutations in exon 3 with c.118C>T\; p.R40X
| Title : Mast Syndrome Outside the Amish Community: SPG21 in Europe - Amprosi_2022_Front.Neurol_12_799953 |
| Author(s) : Amprosi M , Indelicato E , Nachbauer W , Hussl A , Stendel C , Eigentler A , Gallenmuller C , Boesch S , Klopstock T |
| Ref : Front.Neurol , 12 :799953 , 2022 |
| Abstract : Amprosi_2022_Front.Neurol_12_799953 |
| ESTHER : Amprosi_2022_Front.Neurol_12_799953 |
| PubMedSearch : Amprosi_2022_Front.Neurol_12_799953 |
| PubMedID: |
| Gene_locus related to this paper: human-SPG21 |