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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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| Publicado no: | Biochim Biophys Acta |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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