S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine

Author: Montioli Riccardo   Oppici Elisa   Cellini Barbara   Roncador Alessandro   Dindo Mirco   Voltattorni Carla Borri  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.22, Iss.8, 2013-04, pp. : 1615-1624

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