【摘 要】
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Ataxia Telangiectasia is a rare autosomal recessive neurodegenerative disorder caused by mutation in the ATM gene.Identification of mutations is challenging, since they are scattered throughout the ge
【机 构】
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Medical Genetics Unit,Cittàdella Salute e dellaScienza University Hospital
【出 处】
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The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern
论文部分内容阅读
Ataxia Telangiectasia is a rare autosomal recessive neurodegenerative disorder caused by mutation in the ATM gene.Identification of mutations is challenging, since they are scattered throughout the gene, which extends over 150kb of genomic DNA and contains 65 coding exons with an open reading frame of 9,168 bp.
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