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Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type |
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| Authors: | Ana Jorge‐Finnigan Cristina Aguado Rocio Sánchez‐Alcudia David Abia Eva Richard Begoña Merinero Alejandra Gámez Ruma Banerjee Lourdes R. Desviat Magdalena Ugarte Belen Pérez |
| Affiliation: | 1. Centro de Diagnéstico de Enfermedades Moleculares, Centro de Biología Molecular‐SO UAM‐CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain;2. Servicio de Bioinformática, Centro de Biología Molecular‐SO UAM‐CSIC, Madrid, Spain;3. Department of Biological Chemistry, University of Michigan Medical Center, Ann Arbor, Michigan |
| Abstract: | |
| Keywords: | methylmalonic aciduria cblB type ATR MMAB misfolding splicing cobalamin |