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A tailored Cln3(Q352X) mouse model for testing therapeutic interventions in CLN3 Batten disease

CLN3 Batten disease (CLN3 disease) is a pediatric lysosomal storage disorder that presents with progressive blindness, motor and cognitive decline, seizures, and premature death. CLN3 disease results from mutations in CLN3 with the most prevalent mutation, a 966 bp deletion spanning exons 7–8, affec...

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Foilsithe in:Sci Rep
Main Authors: Langin, Logan, Johnson, Tyler B., Kovács, Attila D., Pearce, David A., Weimer, Jill M.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group UK 2020
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7324379/
https://ncbi.nlm.nih.gov/pubmed/32601357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-67478-5
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