Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
Department of Medical Genetics, University Hospital of Northern Norway, N-9038 Tromsø, Norway.
T R
TR
Olsen
L
L
Tranebjaerg
E A
EA
Kvittingen
L
L
Hagenfeldt
C
C
Møller
O
O
Nilssen
D000293:Adolescent; D000328:Adult; D000581:Amidohydrolases / Q000235:genetics*; D017825:Canavan Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009664:Norway; D013548:Sweden
D004247:DNA; D000581:Amidohydrolases; C019751:aspartoacylase