A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

Author:

Ferrer-Cortès Xènia,Narbona Juan,Bujan Núria,Matalonga Leslie,Del Toro Mireia,Arranz José Antonio,Riudor Encarnació,Garcia-Cazorla Angels,Jou Cristina,O'Callaghan Mar,Pineda Mercé,Montero Raquel,Arias Angela,García-Villoria Judit,Alston Charlotte L.,Taylor Robert W.,Briones Paz,Ribes Antonia,Tort Frederic

Funder

Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)

Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR)

The Wellcome Trust Centre for Mitochondrial Research

Medical Research Council (UK) Centre for Translational Muscle Disease Research

The Lily Foundation

UK NHS Highly Specialised Commissioners

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

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4. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder;Al-Hassnan;J. Med. Genet.,2015

5. Characterization of glucose-related metabolic pathways in differentiated rat oligodendrocyte lineage cells;Amaral;Glia,2015

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