title: Naturally occurring mutations in GM2 gangliosidosis: a compendium.
authors.affiliation: Department of Biochemistry and Medical Genetics University of Manitoba, Winnipeg, Canada. traine@ms.umanitoba.ca
authors.forename: B
authors.initials: B
authors.lastname: Triggs-Raine
authors.forename: D J
authors.initials: DJ
authors.lastname: Mahuran
authors.forename: R A
authors.initials: RA
authors.lastname: Gravel
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D005091:Exons; D020143:Gangliosidoses, GM2 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007585:Jews; D009154:Mutation; D010641:Phenotype; D012497:Sandhoff Disease / Q000453:epidemiology / Q000235:genetics; D013329:Structure-Activity Relationship; D013661:Tay-Sachs Disease / Q000453:epidemiology / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000737:chemistry / Q000235:genetics*
chemical_list: D001619:beta-N-Acetylhexosaminidases