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5. Worldwide distribution of ATM locus haplotypes associated with Ataxia Telangiectasia mutations

Worldwide distribution of ATM locus haplotypes associated with Ataxia Telangiectasia mutations

来源 :The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern | 被引量 : 0次 | 上传用户：hongqinshuling

【摘 要】

：

　　Ataxia Telangiectasia is a rare autosomal recessive neurodegenerative disorder caused by mutation in the ATM gene.Identification of mutations is challenging

【作 者】

：

SimonaCavalieri[1]ElisaPozzi[2]ElisaGiorgio[2]CeciliaMancini[2]EleonoraDiGregorio[1]MartaFerrero[2]MidoriMituiCheng[3]KotokaNakamura[3]MilhanTelatar[4]PatrickPatrickConcannon[5]RichardAGatti[3]Alfredo 

【机 构】

：

Medical Genetics Unit,Cittàdella Salute e dellaScienza University Hospital

【出 处】

：

The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern

【发表日期】

：

2015年期

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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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