MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B. Dobyns, Grazia M.S. Mancini, Marjolein H. G. Dremmen et al.|The American Journal of Human Genetics|2018Cited by 85
Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotypeHiroyuki Tsunoda, Frank Martiniuk, Toshio Ohshima et al.|Human Genetics|1996Cited by 14
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotypeHiroyuki Tsunoda, Frank Martiniuk, Toshio Ohshima et al.|Human Genetics|1996Cited by 2