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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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Detalles Bibliográficos
Autores principales:	Hettiarachchi, D., Panchal, Hetalkumar, Pathirana, B. A. P. S., Rathnayaka, P. D., Padeniya, A., Lai, P. S., Dissanayake, V. H. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2020
Materias:	Case Series
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

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