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Genome research to understand the molecular complexity of genetic disease
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http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T0B-4BHCDK1-1&_coverDate=07%2F31%2F2004&_alid=262173605&_rdoc=1 [...] 698insC, 635del10bp
Exon6
G274R, P280S, P280L, E285A, A287T, Y288C, F295S, X314W, 827delGT, 870del4bp, 876del4bp, 923delT
Table 1: Sketch of Aspartoacylase with five introns and six exons. The human ASPA gene [...] KGDH= α-ketoglutarate dehydrogenase.
α-Ketoglutarate dehydrogenase complex (KGDHC; EC 1.2.4.2, EC 2.3.1.61, and EC 1.6.4.3) converts α-ketoglutarate into succinyl CoA. Lower levels of KGDHC induce caspase 3 …