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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Dades bibliogràfiques
Publicat a:Case Rep Genet
Autors principals: Hettiarachchi, D., Panchal, Hetalkumar, Pathirana, B. A. P. S., Rathnayaka, P. D., Padeniya, A., Lai, P. S., Dissanayake, V. H. W.
Format: Artigo
Idioma:Inglês
Publicat: Hindawi 2020
Matèries:
Case Series
Accés en línia: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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