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Updated: May 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在GORASP1的双变异导致了新的高尔基病症与糖化和线粒缺陷的线粒缺陷

Sophie Lebon1, Arnaud Bruneel2,3, Séverine Drunat1,4

  • 1Université Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.

Life science alliance
|February 11, 2025
PubMed
概括

在GORASP1基因中,第一个人类致病变体导致神经发育障碍,原因是GRASP65蛋白质的损失. 这导致戈尔吉糖化缺陷和细胞分裂延迟,识别出一种新的戈尔吉病.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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