title: A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.
authors.forename: Suk-Won
authors.initials: SW
authors.lastname: Ahn
authors.forename: Su-Hyun
authors.initials: SH
authors.lastname: Kim
authors.forename: Yoon-Ho
authors.initials: YH
authors.lastname: Hong
authors.forename: Kwang-Woo
authors.initials: KW
authors.lastname: Lee
authors.forename: Jung-Joon
authors.initials: JJ
authors.lastname: Sung
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D054819:Hexosaminidase B / Q000235:genetics*; D006801:Humans; D016472:Motor Neuron Disease / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D054819:Hexosaminidase B