FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency
Daniele Ghezzi, Ann Saada, Pio D'Adamo, Erika Fernandez-Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo ZevianiVolume:
83
Year:
2008
Language:
english
Pages:
9
DOI:
10.1016/j.ajhg.2008.08.009
File:
PDF, 1.21 MB
english, 2008