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A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia
OBJECTIVES: Ataxia telangiectasia (AT) is a rare autosomal recessive disorder caused by mutation in the Ataxia telangiectasia mutated (ATM) gene. This disorder is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency and a predisposition to leukemia/lymphoma. In this study...
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| Publicado no: | Iran J Child Neurol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Shahid Beheshti University of Medical Sciences
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6160626/ https://ncbi.nlm.nih.gov/pubmed/30279714 |
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