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...

Full description

Saved in:
Bibliographic Details
Main Authors: D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2020/6630300
Tags: Add Tag
No Tags, Be the first to tag this record!