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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Veröffentlicht in:Iran J Child Neurol
Hauptverfasser: SAEIDI, Kolsoum, SALEH GOHARI, Nasrollah, MANSOURI NEJAD, Seyed Ebrahim
Format: Artigo
Sprache:Inglês
Veröffentlicht: Shahid Beheshti University of Medical Sciences 2018
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6160626/
https://ncbi.nlm.nih.gov/pubmed/30279714
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