基因检测诊断共济失调毛细血管扩张症1例

苏杭, 闫永彬, 马淑霞, 郑宏, 李向峰, 任献青, 翟文生, 丁樱

中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (12) : 1311-1312.

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中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (12) : 1311-1312. DOI: 10.11852/zgetbjzz2017-25-12-35
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基因检测诊断共济失调毛细血管扩张症1例

  • 苏杭, 闫永彬, 马淑霞, 郑宏, 李向峰, 任献青, 翟文生, 丁樱
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苏杭, 闫永彬, 马淑霞, 郑宏, 李向峰, 任献青, 翟文生, 丁樱. 基因检测诊断共济失调毛细血管扩张症1例[J]. 中国儿童保健杂志. 2017, 25(12): 1311-1312 https://doi.org/10.11852/zgetbjzz2017-25-12-35
中图分类号: R179   

参考文献

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[5] 刘小群.ATM与肿瘤的关系研究进展[J].中国癌症杂志,2011,21(12):973-977.
[6] McKinnon PJ.ATM and the molccular pathogencsis of ataxia telangiectasia[J].Annu Rev Pathol,2012,7(5):303-321.
[7] Jcong H,Huh HJ,Youn J,ct al,Ataxia-telangiectasia with novel mutations in the ATM Gene[J].Ann Lab Med,2014,34(1):80-84.
[8] Petereit DG,Hahn LJ,Kanekar S,et al.Prevalence of ATM sequence variants in northern plains american indian cancer patients[J].Front Oncol,2013,3:318.
[9] Saunders-Pullman R,Raymond D,Stoessl AJ,et al.Variant ataxia-telangiectasia presenting as primary-apperring dystonia in Canadian Mennonites[J].Neurology,2012,78(9):649-657.
[10] Huang Y,Yang L,Wang J,et al.Twelve novel Atm mutations identied in Chinese ataxia telangiectasia patients[J].Case Rep Pediatr,2011,2011:262641.

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河南省科技攻关项目(152102310098 )

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