A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect
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| Description | scientific article |
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author: Marta Nardella Alessia Micalizzi Marisa Brini Francesco Zonta Tito Calì Raffaele Lopreiato Dirk J Lefeber Francesca Vallese Enza Maria Valente Ernesto Carafoli Ginevra Zanni Giuseppe Zanotti Domenico Cieri Enrico Bertini |
| Publication date | August 11, 2017 |
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