title: Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
authors.affiliation: Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Strasberg
authors.forename: I
authors.initials: I
authors.lastname: Warren
authors.forename: M A
authors.initials: MA
authors.lastname: Skomorowski
authors.forename: A
authors.initials: A
authors.lastname: Feigenbaum
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D006720:Homozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D007962:Leukocytes / Q000737:chemistry / Q000201:enzymology; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D001619:beta-N-Acetylhexosaminidases