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Investigation of tRNA(Lys/Leu) and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients
INTRODUCTION: Ataxia telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease. AT is the result of mutations in the AT-mutated (ATM) gene. ATM protein is required for radiation-induced apoptosis and acts before mitochondrial collapse. The tRNA genes are considere...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Termedia Publishing House
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3258747/ https://www.ncbi.nlm.nih.gov/pubmed/22295039 http://dx.doi.org/10.5114/aoms.2011.23424 |