Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
Strasberg
P
P
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Warren
I
I
Skomorowski
M A
MA
Feigenbaum
A
A
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*
D017931:DNA Primers; D001619:beta-N-Acetylhexosaminidases