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Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype
OBJECTIVE: Nonsense mutations account for 5–70% of all genetic disorders. In the United States, nonsense mutations in the CLN1/PPT1 gene underlie >40% of the patients with infantile neuronal ceroid lipofuscinosis (INCL), a devastating neurodegenerative lysosomal storage disease. We sought to gene...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284126/ https://www.ncbi.nlm.nih.gov/pubmed/25574475 http://dx.doi.org/10.1002/acn3.144 |