Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study
出版年份 2011 全文链接
标题
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study
作者
关键词
-
出版物
HUMAN MUTATION
Volume 33, Issue 3, Pages 561-571
出版商
Wiley
发表日期
2011-12-29
DOI
10.1002/humu.22016
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Aberrant V(D)J Recombination in Ataxia Telangiectasia Mutated-Deficient Lymphocytes Is Dependent on Nonhomologous DNA End Joining
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- Ataxia telangiectasia: The consequences of a delayed diagnosis
- (2011) Caroline M.P.W. Mandigers et al. RADIOTHERAPY AND ONCOLOGY
- Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia
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- Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
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- Modeling ATM mutant proteins from missense changes confirms retained kinase activity
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- Nonaminoglycoside compounds induce readthrough of nonsense mutations
- (2009) Liutao Du et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Clinical spectrum of ataxia-telangiectasia in adulthood
- (2009) M.M.M. Verhagen et al. NEUROLOGY
- Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
- (2008) E. R. Staples et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Attenuated presentation of ataxia-telangiectasia with familial cancer history
- (2008) C. Simonin et al. JOURNAL OF NEUROLOGY
- Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation
- (2008) M Gładkowska-Dura et al. JOURNAL OF PATHOLOGY
- Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
- (2008) Martin F. Lavin NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Ataxia-Telangiectasia and mechanical ventilation: A word of caution
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