Gene symbol: ARSA. Disease: metachromatic leukodystrophy.
Berna
L
L
Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic. lindaberna@yahoo.com
Gieselmann
V
V
Poupetova
H
H
Hrebicek
M
M
Elleder
M
M
Ledvinova
J
J
D019943:Amino Acid Substitution; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D020125:Mutation, Missense
D018389:Codon, Nonsense; D002553:Cerebroside-Sulfatase