Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

Human genetics

Patrick Forny, Tanja Plessl, Caroline Frei, Celine Bürer, D Sean Froese, Matthias R Baumgartner

• DOI: 10.1007/s00439-021-02398-6
• PMID: 34796408
• PMCID: PMC9262797