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 : homozygous deletion in SPG21 from exon 3 through exon 7, 37-year old chinese patient
| Title : Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome - Xue_2021_CNS.Neurosci.Ther__ |
| Author(s) : Xue YY , Huang XR , Dong HL , Wu ZY , Li HF |
| Ref : CNS Neurosci Ther , : , 2021 |
| Abstract : Xue_2021_CNS.Neurosci.Ther__ |
| ESTHER : Xue_2021_CNS.Neurosci.Ther__ |
| PubMedSearch : Xue_2021_CNS.Neurosci.Ther__ |
| PubMedID: 34492745 |
| Gene_locus related to this paper: human-SPG21 |