Article

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia-Telangiectasia Patients: Introducing Three Novel Mutations

2023-05-30

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Ataxia Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the <italic>ATM</italic> gene. The gene is on chromosome 11q22-23 and codes for the protein kinase ATM, which plays an essential role in DNA damage repair. The classic neurological signs of AT include progressive cerebellar ataxia, oculomotor abnormalities,...

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Literature Corpus work: a9c2f8ed-2167-502e-bebd-824dfcb90fab
DOI: 10.21203/rs.3.rs-2914441/v1

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