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