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A novel mouse model of creatine transporter deficiency
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and behavioral disturbances, language and speech impairment ( OMI...
Autores principales: | Baroncelli, Laura, Alessandrì, Maria Grazia, Tola, Jonida, Putignano, Elena, Migliore, Martina, Amendola, Elena, Gross, Cornelius, Leuzzi, Vincenzo, Cioni, Giovanni, Pizzorusso, Tommaso |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000Research
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243761/ https://www.ncbi.nlm.nih.gov/pubmed/25485098 http://dx.doi.org/10.12688/f1000research.5369.1 |
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