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Updated: Jul 7, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
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C9orf72 在6个多代亲属中重复扩张不一致

Marie Ryan1, Mark A Doherty1, Ahmad Al Khleifat1

  • 1From the Academic Unit of Neurology (M.R., E.C., M.H., O.H.) and Smurfit Institute of Genetics (M.A.D., J.C.H., R.L.M.), Trinity College Dublin, Ireland; Department of Basic and Clinical Neuroscience (A.A., A.A.-C.), Maurice Wohl Clinical Neuroscience Institute, King's College London, United Kingdom; Department of Psychology (E.C.), Beaumont Hospital, Dublin, Ireland; King's College Hospital (A.A.-C.), London, United Kingdom; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Ireland.

Neurology. Genetics
|December 27, 2023
PubMed
概括

患有C9orf72重复扩张的个体的家庭成员可能面临缩性侧面硬化症 (ALS) 的风险增加,无论他们的遗传载体状态如何. 这一发现影响了遗传风险评估和为亲属提供咨询.

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