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Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
https://arctichealth.org/en/permalink/ahliterature74951
Source
J Med Genet. 2002 Sep;39(9):e55
Publication Type
Article
Date
Sep-2002
More detail
Author
T R Olsen
L. Tranebjaerg
E A Kvittingen
L. Hagenfeldt
C. Møller
O. Nilssen
Author Affiliation
Department of Medical Genetics, University Hospital of Northern Norway, N-9038 Tromsø, Norway.
Source
J Med Genet. 2002 Sep;39(9):e55
Date
Sep-2002
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Amidohydrolases - genetics
Canavan Disease - enzymology - genetics - pathology
DNA - chemistry - genetics
DNA Mutational Analysis
Family Health
Humans
Male
Mutation, Missense
Norway
Research Support, Non-U.S. Gov't
Sweden
PubMed ID
12205125
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