Tomanin R et al.
Human Mutation, 2018
Harmatz P et al.
Frontiers in Bioscience (landmark Edition), 2017
Zanetti A et al.
Jimd Reports, 2014
Saito S et al.
Molecular Genetics and Metabolism, 2008
Karageorgos L et al.
Human Mutation, 2007
Karageorgos L et al.
Molecular Genetics and Metabolism, 2007