Friedreich Ataxia: A Case Study Shows a Novel Intragenic Deletion of the FXN Gene.

Published Date: 21 Dec 2023

A novel intragenic deletion affecting the 5'UTR upstream region and exons 1 and 2 of the FXN gene was discovered through parental sample testing in a recent case study of a 32-year-old man with Friedreich ataxia.

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