title: Novel missense mutation (Y231C) in a turkish patient with canavan disease.
authors.forename: P L
authors.initials: PL
authors.lastname: Rady
authors.forename: T
authors.initials: T
authors.lastname: Vargas
authors.forename: S K
authors.initials: SK
authors.lastname: Tyring
authors.forename: R
authors.initials: R
authors.lastname: Matalon
authors.forename: U
authors.initials: U
authors.lastname: Langenbeck
mesh_terms: 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
chemical_list: D000581:Amidohydrolases; C019751:aspartoacylase