Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator

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Source: Human Mutation - June 28, 2016 Category: Genetics & Stem Cells Authors: Mihaela Pupavac, David Watkins, Francis Petrella, Somayyeh Fahiminiya, Alexandre Janer, Warren Cheung, Anne‐Claude Gingras, Tomi Pastinen, Joseph Muenzer, Jacek Majewski, Eric A. Shoubridge, David S. Rosenblatt Tags: Research Article Source Type: research