Article
Effects of the G376E and G157D mutations on the stability of yeast enolase--a model for human muscle enolase deficiency.
The FEBS journal - 1 Jan 2008
Zhao Songping, Choy Bonny S F, Kornblatt Mary J
Abstract excerpt
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 L et al. (2001) Ann Neurol50, 202-207]. The subject had inherited two mutated genes for beta-enolase. These mutations changed gly...
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