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Stop codon read-through of a methylmalonic aciduria mutation.
- N. Buck, L. Wood, Ruimei Hu, H. Peters
- Biology, Medicine
- Molecular genetics and metabolism
- 1 August 2009
A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein) accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. There are currently… Expand
Gene induction for the treatment of methylmalonic aciduria
Methylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl‐coenzyme A mutase (MCM), resulting… Expand