Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene

논문상세정보
' Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 의학
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
7,576 2

0.0%

' Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene' 의 참고문헌

  • Unusual features in the inheritance of ataxia telangiectasia
    Woods CG Hum Genet 84 555-562 [1990]
  • Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study
    Verhagen MM Hum Mutat 33 561-571 [2012]
  • Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan
    Morio T Int J Hematol 90 455-462 [2009]
  • Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia
    Jiang H J Neurol Sci 241 1-6 [2006]
  • Immunodeficiency and infections in ataxia-telangiectasia
    Nowak-Wegrzyn A J Pediatr 144 505-511 [2004]
  • Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
    허희재 Annals of Laboratory Medicine 33 3 217-220 [2013]
  • High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
    Stumm M Cytogenet Cell Genet 92 186-191 [2001]
  • Genotype-phenotype relationships in ataxia-telangiectasia and variants
    Gilad S Am J Hum Genet 62 551-561 [1998]
  • Gene Reviews
    Gatti R - [1993]
  • Clinical spectrum of ataxia-telangiectasia in adulthood
    Verhagen MM Neurology 73 430-437 [2009]
  • Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia
    Laake K Hum Mutat 16 232-246 [2000]
  • ATM and the molecular pathogenesis of ataxia telangiectasia
    McKinnon PJ Annu Rev Pathol 7 303-321 [2012]
  • ATM and ataxia telangiectasia
    McKinnon PJ EMBO Rep 5 772-776 [2004]
  • A case of progressive elevation of serum gamma-GTP level in ataxia-telangiectasia
    Song MH 대한소아신경학회지 14 2 363-368 [2006]
  • A case of ataxia telangiectasia
    Kang DW J Korean Neurol Assoc 15 895-899 [1997]