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...
Main Authors: | D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2020-01-01
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Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2020/6630300 |
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