A novel mouse model of creatine transporter deficiency [v1; ref status: indexed, http://f1000r.es/4f8]
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...
Autors principals: | , , , , , , , , , |
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Format: | Article |
Idioma: | English |
Publicat: |
F1000 Research Ltd
2014-09-01
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Col·lecció: | F1000Research |
Matèries: | |
Accés en línia: | http://f1000research.com/articles/3-228/v1 |