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Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
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 A-T is known to...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Korean Society for Laboratory Medicine
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3646200/ https://ncbi.nlm.nih.gov/pubmed/23667852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.3.217 |
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