A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect
Titel:
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect
Auteur:
Vicario, Mattia Calì, Tito Cieri, Domenico Vallese, Francesca Bortolotto, Raissa Lopreiato, Raffaele Zonta, Francesco Nardella, Marta Micalizzi, Alessia Lefeber, Dirk J. Valente, Enza Maria Bertini, Enrico Zanotti, Giuseppe Zanni, Ginevra Brini, Marisa Carafoli, Ernesto
Verschenen in:
Biochimica et Biophysica Acta. Molecular basis of disease