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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Carpinelli, Marina R., Voss, Anne K., Manning, Michael G., Perera, Ashwyn A., Cooray, Anne A., Kile, Benjamin T., Burt, Rachel A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Company of Biologists Limited 2014
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036472/
https://ncbi.nlm.nih.gov/pubmed/24682784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.014605
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