Details
| Name | c.184A |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | qPCR |
| Up/Down | NA |
| Pro/Anti | Pro |
| Funtion Description | A significantly higher frequency of the MTX1 c.184A allele was found in carriers of GBA mutations compared to non-carriers (0.67 and 0.45, respectively, p<0.0001). The homozygous MTX1 c.184A/A genotype was associated with a significantly earlier age of mo |
| Regulation Gene | MTX1 |
| Year | 2011 |
| Pubmed ID | 21837367 |
| Title | Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease |
| Drug | NA |
| Disease | Parkinson's disease |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | somatic mutation |
| High-throughput | NA |