Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria
Frederic Tort(Instituto de Salud Carlos III), Antònia Ribes(Instituto de Salud Carlos III), Judit García‐Villoria(Instituto de Salud Carlos III), Joaquı́n Dopazo(Fundación Progreso y Salud), Xènia Ferrer-Cortés(Universitat Internacional de Catalunya), Enrique Vidal(Leitat Technological Center), Aleix Navarro‐Sastre(Centre for Biomedical Network Research on Rare Diseases), María Josep Coll(Centre for Biomedical Network Research on Rare Diseases), Paz Briones(Consejo Superior de Investigaciones Científicas), Jorge Jiménez(Centre for Biomedical Network Research on Rare Diseases), María Teresa García‐Silva, Orly Elpeleg(Hadassah Medical Center)
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