A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect - ScienceDirect

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect - ScienceDirect

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

Author links open overlay panelMattiaVicarioa1TitoCalìa1DomenicoCieriaFrancescaValleseaRaissaBortolottoaRaffaeleLopreiatoaFrancescoZontabcMartaNardelladAlessiaMicalizzieDirk J.LefeberfEnza MariaValenteegEnricoBertinidGiuseppeZanottiaGinevraZannibMarisaBrinihErnestoCarafolii

https://doi.org/10.1016/j.bbadis.2017.08.006