- 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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- 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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