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Genome research to understand the molecular complexity of genetic disease
C152Y, C152W, R168C, IVS2 del- 2A, -3C
Exon4
P181T, P183H, Q184X, V186F, M195R, 527 del6bp, 566del7bp
Exon5
K213E E214X, C218X, Y231X, H244R, D249V 698insC, 635del10bp
Exon6
G274R, P280S, P280L, E285A [...] Inhibition of N- acetylaspartate production: implications for 1H MRS studies in vivo. Neuroreport 1996;7:1397-1400.
Birken DL, Oldendorf WH. N-acetyl- - aspartic acid: a literature review of a compound prominent [...] d aspartoacylase gene transfer to the brain of knockout mouse for canavan disease. Mol. Ther. 2003;7: 580-587.
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http://www.sciencedirect.com/science?_ob=JournalURL&_cdi=4845&_auth=y&_acct=C000059725 …