Genetic Ataxia Telangiectasia porcine model phenocopies the multisystemic features of the human disease

Ataxia telangiectasia (AT) is a progressive multisystem autosomal recessive disorder caused by mutations in the AT-mutated (ATM) gene. Early onset AT in children is characterized by cerebellar degeneration, leading to motor impairment. Lung disease and cancer are the two most common causes of death...

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Bibliografiske detaljer
Udgivet i:Biochim Biophys Acta
Main Authors: Beraldi, Rosanna, Meyerholz, David K., Savinov, Alexei, Kovács, Attila D., Weimer, Jill M., Dykstra, Jordan A., Geraets, Ryan D., Pearce, David A.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5687068/
https://ncbi.nlm.nih.gov/pubmed/28746835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2017.07.020
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