Molecular basis of methylmalonyl‐CoA mutase apoenzyme defect in 40 European patients affected by mut ° and mut – forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene

Autor: Jacques Elion, Cécile Acquaviva, Jean-François Benoist, Isabelle Callebaut, Thu Koskas, Sabrina Pereira, Dominique Porquet

Publikováno v: Human Mutation
Human Mutation, 2005, 25, pp.167-176. ⟨10.1002/humu.20128⟩
Human Mutation, Wiley, 2005, 25, pp.167-176. ⟨10.1002/humu.20128⟩

Methylmalonyl-CoA mutase (MCM) apoenzyme deficiency is a rare metabolic disease that may result in distinct biochemical phenotypes of methylmalonic acidemia (MMA), namely mut(o) and mut-. We analyzed a cohort of 40 MCM-deficient patients with MMA aff

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd73ac878263e145a2c374af71df24e4
https://doi.org/10.1002/humu.20128