Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease.
Kaul
R
R
Research Institute, Miami Children's Hospital, Florida 33155, USA.
Gao
G P
GP
Michals
K
K
Whelan
D T
DT
Levin
S
S
Matalon
R
R
D000581:Amidohydrolases / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D001483:Base Sequence; D017825:Canavan Disease / Q000235:genetics*; D002460:Cell Line; D002675:Child, Preschool; D006801:Humans; D008297:Male; D008877:Middle East; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014162:Transfection; D044465:White People
D000581:Amidohydrolases; C019751:aspartoacylase