Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
Molecular Genetics And Metabolism
Fitterer, Braden B; Hall, Patricia P; Antonishyn, Nick N; Desikan, Rajagopal R; Gelb, Michael M; Lehotay, Denis D
Publication Date: 2014-03
Variant appearance in text: HEXB: 1367A>C; Tyr456Ser
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
Journal Of Biochemistry
Yamada, Kenichiro K; Takado, Yuhei Y; Kato, Yusuke S YS; Yamada, Yasukazu Y; Ishiguro, Hideaki H; Wakamatsu, Nobuaki N