| PUBMED ID | 28807751 |
| DOI | 10.1016/j.bbadis.2017.08.006 |
| TITLE | A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect |
| 1 combination linked to 722 | OLI503 |