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Updated: Sep 9, 2025

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与CHOPS综合征相关的新型AFF4 (c.778A>G) 变种的鉴定

Xinyue Deng1,2,3, Lingling Zhao4, Ming Chen1

  • 1Health Management Center, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.

Intractable & rare diseases research
|September 4, 2025
PubMed
概括

这种罕见的遗传疾病是由AFF4基因变异引起的. 研究人员在一个中国家庭中发现了一种新的AFF4误解变异,扩大了对这种疾病的理解.

关键词:
AFF4基因CHOPS综合征一个新的变种新型变种整体外基因组测序

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Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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