Novel missense mutation (Y231C) in a turkish patient with canavan disease.
Rady
P L
PL
Vargas
T
T
Tyring
S K
SK
Matalon
R
R
Langenbeck
U
U
D000581:Amidohydrolases / Q000172:deficiency / Q000235:genetics*; D019943:Amino Acid Substitution; D017825:Canavan Disease / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000235:genetics; D020125:Mutation, Missense; D014421:Turkey
D000581:Amidohydrolases; C019751:aspartoacylase