Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system

Journal of inherited metabolic disease

Patricie Burda, Terttu Suormala, Dorothea Heuberger, …, Brian Fowler, D Sean Froese, Matthias R Baumgartner

• DOI: 10.1007/s10545-016-9987-0
• PMID: 27743313