title: Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.
authors: Department of Experimental Medicine, Amsterdam, The Netherlands.
authors: P A
authors: PA
authors: Bolhuis
authors: H
authors: H
authors: Bikker
mesh_terms: D000483:Alleles; D004586:Electrophoresis; D054819:Hexosaminidase B; D006801:Humans; D012497:Sandhoff Disease / Q000235:genetics*; D017384:Sequence Deletion; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases