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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Hindawi
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744220/ https://www.ncbi.nlm.nih.gov/pubmed/33376610 http://dx.doi.org/10.1155/2020/6630300 |