Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
Marian Kroos Marianne Hoogeveen-westerveld; Helen Michelakakis; Robert Pomponio; Ans Van der Ploeg; Dicky Halley; Arnold Reuser; Suely Kazue Nagahashi Marie
Human mutation v. 33, n. 8, p. 1161-1165, 2012Hoboken 2012
Acesso online. A biblioteca também possui exemplares impressos.