(Q51607932)
Statements
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum (English)
Olimpia Musumeci
Andrea Thieme
Rudolf A Kley
Marius Kuhn
Zoltan Lukacs
Marcus Deschauer
Michele Gaeta
Antonio Toscano
Dieter Gläser
10 July 2015