C9orf72FRA9A

Mila Mirceta1,2, Monika H M Schmidt1,2, Natalie Shum1,2

  • 1Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.

NAR molecular medicine
|December 13, 2024
PubMed
概括

C9orf72扩张导致FRA9A部位的叶酸敏感染色体脆弱,导致DNA损伤和免疫反应. 这解释了疾病的联系,并突出了对维生素敏感的遗传不稳定性.

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