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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Enregistré dans:
Détails bibliographiques
Publié dans:Ann Clin Transl Neurol
Auteurs principaux: Bouchelion, Ashleigh, Zhang, Zhongjian, Li, Yichao, Qian, Haohua, Mukherjee, Anil B
Format: Artigo
Langue:Inglês
Publié: Blackwell Publishing Ltd 2014
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4284126/
https://ncbi.nlm.nih.gov/pubmed/25574475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.144
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