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Báo cáo khoa học: Effects of the G376E and G157D mutations on the stability of yeast enolase – a model for human muscle enolase deficiency
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The first known human enolase deficiency was reported in 2001 [Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri Let al.(2001) Ann Neurol50,202–207]. The subject had inherited two mutated genes forb-enolase. These mutations changed glycine 156 to aspartate and glycine 374 to glutamate.
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