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Updated: Jul 3, 2025

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基因组测序确定了9号染色体的逆转,破坏了2个无关的HHT家族中的ENG

M Tusseau1, M Eyries2, N Chatron1

  • 1Hospices Civils de Lyon, Department of Medical Genetics and National HHT Reference Center, University Hospital of Lyon, Lyon, France; Laboratoire AURAGEN, Lyon, France.

European journal of medical genetics
|February 14, 2024
PubMed
概括

遗传性出血端膜切除症 (HHT) 可能是由结构变异引起的,特别是染色体9的逆转扰乱了ENG基因. 全基因组测序可以识别这些以前未被识别的HT的原因.

关键词:
基因组测序是指基因组的测序.HHT HHT HHT 的时间.逆转式的反转方式

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