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...

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Detalles Bibliográficos
Autores principales: Bouchelion, Ashleigh, Zhang, Zhongjian, Li, Yichao, Qian, Haohua, Mukherjee, Anil B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Research Articles
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

Internet

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

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