title: The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.
abstract: The GM2 gangliosidoses are a group of recessive disorders characterized by accumulation of GM2 ganglioside in neuronal cells. The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis). We report the establishment of three relational locus-specific databases recording allelic variation at the HEXA, HEXB, and GM2A genes and accessed at the GM2 gangliosidoses home page (http://data.mch.mcgill.ca/gm2-gangliosidoses). Submission forms are available for the addition of new mutations to the databases. The databases are available online for users to search and retrieve information about specific alleles by a number of fields describing mutations, phenotypes, or author(s).
authors.affiliation: Department of Biology, McGill University, Montreal, Quebec, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Cordeiro
authors.forename: P
authors.initials: P
authors.lastname: Hechtman
authors.forename: F
authors.initials: F
authors.lastname: Kaplan
mesh_terms: D000483:Alleles; D002170:Canada; D016208:Databases, Factual; D020143:Gangliosidoses, GM2 / Q000235:genetics; D014644:Genetic Variation; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D006801:Humans; D020407:Internet; D007527:Isoenzymes / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D012497:Sandhoff Disease / Q000235:genetics; D013661:Tay-Sachs Disease / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000737:chemistry / Q000235:genetics*
chemical_list: D007527:Isoenzymes; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases