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

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

19

Citations

39

References

2017

Year

Mattia Vicario, Tito Calí, Domenico Cieri, Francesca Vallese, Raissa Bortolotto, Raffaele Lopreiato, Francesco Zonta, Marta Nardella, Alessia Micalizzi, Dirk J. Lefeber,

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Novel Pmca3 MutationBiochemistryNatural SciencesPathologyMolecular BiologyAtaxic PatientPump Defect

References

	Year	Citations

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