title: A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
authors.affiliation: McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada.
authors.forename: Z X
authors.initials: ZX
authors.lastname: Zhang
authors.forename: N
authors.initials: N
authors.lastname: Wakamatsu
authors.forename: B R
authors.initials: BR
authors.lastname: Akerman
authors.forename: E H
authors.initials: EH
authors.lastname: Mules
authors.forename: G H
authors.initials: GH
authors.lastname: Thomas
authors.forename: R A
authors.initials: RA
authors.lastname: Gravel
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D018076:DNA, Complementary; D005260:Female; D006579:Heterozygote; D054819:Hexosaminidase B; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D012497:Sandhoff Disease / Q000235:genetics*; D017384:Sequence Deletion; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases