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Updated: May 25, 2025

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16q24.3 微删除破坏ANKRD11的上游非编码区域 引起KBG综合征

Aiko Iwata-Otsubo1, Alyssa L Rippert1, Jorune Balciuniene2

  • 1Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Genes
|February 26, 2025
PubMed
概括

在ANKRD11基因的非编码元1中的微切除会导致KBG综合征,一种发育障碍. 转录组分析有助于识别这些遗传变异.

关键词:
在 ANKRD1111 里面.在KBG综合征中,发育延迟的发展延迟.基因表达的基因表达方式分子诊断 分子诊断 分子诊断转录组 (transcriptome) 是一个转录组.

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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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