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A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene |
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| Authors: | Patricia Alcaide Pilar Rodriguez‐Pombo Pedro Ruiz‐Sala Isaac Ferrer Pedro Castro Yolanda Ruiz Martin Begoña Merinero Magdalena Ugarte |
| Affiliation: | 1. Centro de Diagnóstico de Enfermedades Moleculares, Departamento Biología Molecular CBM‐SO, CSIC‐UAM, Universidad Autónoma de Madrid, Madrid, Spain;2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain;3. Servicio de Neuropediatría, Hospital Gregorio Mara?ón, Madrid, Spain. |
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