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Updated: Jun 28, 2025

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与PLAA相关的神经发育障碍中的等位基异质性和异常囊泡循环

Michele Iacomino1, Nadia Houerbi2, Sara Fortuna3

  • 1Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Frontiers in molecular neuroscience
|April 23, 2024
PubMed
概括

脂酶-A2-激活蛋白 (PLAA) 基因中的新遗传变异与儿童的神经发育障碍有关. 这些PLAA基因缺陷会破坏囊泡循环,影响大脑发育.

关键词:
在这种情况下,PLAA基因会被发现.这些是SNARE病变.在新的变种 de novo 变种.发展回归的发展回归.神经发育障碍 神经发育障碍突触传输是突触传输的过程.

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