Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.
Velinov
M
M
Zellers
N
N
Styles
J
J
Wisniewski
K
K
D000409:Alanine / Q000235:genetics*; D000581:Amidohydrolases / Q000235:genetics*; D019943:Amino Acid Substitution; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D017825:Canavan Disease / Q000201:enzymology* / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005998:Glycine / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*
D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase; D000409:Alanine; D005998:Glycine