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Updated: May 10, 2026

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评估PAX6基因中的分割变异:一种全面的小基因方法

Kseniya Davydenko1, Alexandra Filatova1, Mikhail Skoblov1

  • 1Department of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.

Journal of cellular and molecular medicine
|March 25, 2025
PubMed
概括

在PAX6基因中,致病性拼接变异比以前认为的更为常见,可能导致30%的无血病病例. 我们新的小基因系统准确地识别了这些关键的遗传突变.

关键词:
在PAX6中使用PAX6.安尼里迪亚 (Aniridia) 是一个无线的.迷你基因是一种微型基因.视网膜疾病 视网膜疾病拼接 拼接 拼接 拼接

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相关概念视频

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...