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A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination
Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid. In Canavan disease, spongiform encephalopathy of the brain causes progressive mental retardation, motor deficit and death. We have is...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Limited
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036472/ https://www.ncbi.nlm.nih.gov/pubmed/24682784 http://dx.doi.org/10.1242/dmm.014605 |