Associated Papers
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Worgan LC et al.
Human Mutation, 2006
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C et al.
Human Mutation, 2005
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
Janata J et al.
Human Molecular Genetics, 1997
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
Ledley FD et al.
Human Mutation, 1997
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
Thomä NH et al.
Protein Science : a Publication of the Protein Society, 1996
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