Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
Harvey
J S
JS
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Carey
W F
WF
Nelson
P V
PV
Morris
C P
CP
D000595:Amino Acid Sequence; D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D003062:Codon; D005091:Exons; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D017354:Point Mutation
D003062:Codon; D009838:Oligodeoxyribonucleotides; D002553:Cerebroside-Sulfatase