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Updated: Jul 15, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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在神经发育迟缓患者的催化子单元结合域和基因型-表型分析中,PPP2R1A的新型变异

Yanyan Qian1, Yinmo Jiang1, Ji Wang2

  • 1Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai 201102, China.

Genes
|September 28, 2023
PubMed
概括

这项研究确定了与神经发育障碍 (NDD) 相关的PPP2R1A基因的新变异. 这些遗传变化影响蛋白质功能,并揭示了基因型-表型相关性,以获得更好的预后.

关键词:
这就是PPP2R1A.在PPP2R1A-PPP2R5D-PPP2CA复合体中.基因型表型相关性相关性神经发育障碍 神经发育障碍

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相关概念视频

Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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