Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
Nicole Muschol, Sandra Pohl, Ann Meyer, Andreas Gal, Kurt Ullrich, Thomas BraulkeVolume:
155
Year:
2011
Language:
english
Pages:
6
DOI:
10.1002/ajmg.a.34053
File:
PDF, 159 KB
english, 2011