A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient.
Brewer
K K
KK
D001483:Base Sequence; D003062:Codon; D004247:DNA; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D003062:Codon; D004247:DNA; D001619:beta-N-Acetylhexosaminidases