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Updated: May 13, 2025

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在ATM中插入一个新的Alu元素诱导了怀疑HBOC患者的外显子跳转

Janin Klein1, Aldrige B Allister1, Gunnar Schmidt1

  • 1Department of Human Genetics, Hannover Medical School, Hannover, Germany.

Human mutation
|April 14, 2025
PubMed
概括

在ATM中插入一种新的Alu元素会导致表细胞跳转,这可能解释未被诊断的遗传性乳腺和卵巢癌 (HBOC) 病例. 移动元素插入可能是遗传疾病的低估原因.

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