The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
Mahuran
D J
DJ
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
D001692:Biological Transport; D005678:G(M2) Ganglioside / Q000378:metabolism*; D005796:Genes; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D046911:Macromolecular Substances; D009154:Mutation; D012323:RNA Processing, Post-Transcriptional; D012497:Sandhoff Disease / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D007527:Isoenzymes; D046911:Macromolecular Substances; D005678:G(M2) Ganglioside; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases