FXN gene methylation determines carrier status in Friedreich ataxia.

Christina Lam,Kaitlyn M Gilliam,Layne N Rodden,Kimberly A Schadt,David R Lynch,Sanjay Bidichandani

Journal of medical genetics（2023）

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摘要

DNA methylation reliably detects the GAA-TRE in the heterozygous state and offers a robust alternative strategy to diagnose FRDA due to compound heterozygosity and to identify asymptomatic heterozygous carriers of the GAA-TRE.

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关键词

DNA Methylation,DNA Repeat Expansion,Movement Disorders

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