title: Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant.
authors.forename: M B
authors.initials: MB
authors.lastname: Coulter-Mackie
mesh_terms: D000483:Alleles; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013661:Tay-Sachs Disease / Q000201:enzymology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D001619:beta-N-Acetylhexosaminidases