H139Hfs13* PPM1K causes a mild variant of MSUD
Primers available for 5 of 5 genes in this pathway.
| Gene | Product | Specificity | |
|---|---|---|---|
| BCKDHA | 145 bp | Multi-target | View primer |
| BCKDHB | 147 bp | Gene-specific | View primer |
| DBT | 132 bp | Gene-specific | View primer |
| DLD | 141 bp | Multi-target | View primer |
| PPM1K | 125 bp | Gene-specific | View primer |
Source: R-HSA-9912529 · Pathway data from Reactome, released under CC0.