A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
Brown
D H
DH
California Tay-Sachs Disease Prevention Program, Children's Hospital and Health Center, San Diego 92123-2752, USA.
Triggs-Raine
B L
BL
McGinniss
M J
MJ
Kaback
M M
MM
D017398:Alternative Splicing; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D003955:Diagnostic Tests, Routine; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005602:France; D006147:Guanine; D054818:Hexosaminidase A; D006801:Humans; D007438:Introns; D007494:Ireland; D007585:Jews / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D013941:Thymine; D001619:beta-N-Acetylhexosaminidases / Q000097:blood / Q000235:genetics*
D006147:Guanine; D004247:DNA; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases; D013941:Thymine