- Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
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Huh HJ, Cho KH, Lee JE, Kwon MJ, Ki CS, Lee PH
- KMID: 1781331
- Ann Lab Med.
- 2013 May;33(3):217-220.
- doi: 10.3343/alm.2013.33.3.217
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although... -
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- Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
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Jeong H, Huh HJ, Youn J, Kim JS, Cho JW, Ki CS
- KMID: 1781368
- Ann Lab Med.
- 2014 Jan;34(1):80-84.
- doi: 10.3343/alm.2014.34.1.80
No abstract available. -
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- Induced Apoptosis of Cancer Cells by Antisense ATM Gene Therapy
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Yi HK, Chang SH, Lee DY, Kim JS, Hwang RH
- KMID: 2175105
- J Korean Cancer Assoc.
- 2000 Apr;32(2):339-349.
PURPOSE: Recently cloned AT gene mutated (ATM) in ataxia telangiectasia is involved in DNA damage response at different cell cycle checkpoints and also appears to have a wide role in signal transduction.... -
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- Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing
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Zhao Q, Yang J, Li L, Cao D, Yu M, Shen K, the BGI Group
- KMID: 2413427
- J Gynecol Oncol.
- 2017 Jul;28(4):e39.
- doi: 10.3802/jgo.2017.28.e39
OBJECTIVE: To define genetic profiling of homologous recombination (HR) deficiency in Chinese ovarian cancer patients. METHODS: we have applied next-generation sequencing to detect deleterious mutations through all exons in 31 core... -
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