Associated Papers
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
Sakamoto O et al.
Journal of Human Genetics, 2007
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
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
Mikami H et al.
Journal of Human Genetics, 1999
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
Ledley FD et al.
Human Mutation, 1997
Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
Drennan CL et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
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