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Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
INTRODUCTION: Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from early childhood. The neurological deficit ass...
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| 出版年: | Case Rep Genet |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Hindawi
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7744220/ https://ncbi.nlm.nih.gov/pubmed/33376610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/6630300 |
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