A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers
Titel:
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers
Auteur:
Siri, Laura Rossi, Andrea Lanza, Federica Mazzotti, Raffaella Costa, Anna Stroppiano, Marina Gaiero, Alberto Cohen, Amnon Biancheri, Roberta Filocamo, Mirella