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...

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Dades bibliogràfiques
Autors principals: Houshmand, Massoud, Kasraie, Sadaf, Etemad Ahari, Solmaz, Moin, Mostafa, Bahar, Mohammadali, Zamani, Akram
Format: Artigo
Idioma:Inglês
Publicat: Termedia Publishing House 2011
Matèries:
Clinical Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3258747/
https://ncbi.nlm.nih.gov/pubmed/22295039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5114/aoms.2011.23424
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