Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
활용도 Analysis
논문 Analysis
연구자 Analysis
저자
정희정
허희재
윤진영
김지선
조진환
기창석
제어번호
101631726
학술지명
Annals of Laboratory Medicine
권호사항
Vol.
34
No.
1
[
2014
]
발행처
대한진단검사의학회
발행처 URL
http://www.kslm.org
자료유형
학술저널
수록면
80-84
언어
English
출판년도
2014
등재정보
KCI등재
소장기관
충남대학교 의학도서관
판매처
'
Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene' 의 주제별 논문영향력
논문영향력 요약
주제
동일주제 총논문수
논문피인용 총횟수
주제별 논문영향력의 평균
7,576
2
자세히
주제별 논문영향력
논문영향력
주제
주제별 논문수
주제별 피인용횟수
주제별 논문영향력
주제분류(KDC/DDC)
의학
7,589
0
계
7,589
0
* 다른 주제어 보유 논문에서 피인용된 횟수
2
닫기
'
Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene' 의 참고문헌
Unusual features in the inheritance of ataxia telangiectasia
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study
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
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]
Clinical spectrum of ataxia-telangiectasia in adulthood
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
ATM and ataxia telangiectasia
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]
'
Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene'
의 유사주제(
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