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Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia

Huh HJ, Cho KH, Lee JE, Kwon MJ, Ki CS, Lee PH

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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