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Updated: Sep 18, 2025

Detection of In Situ Protein-protein Complexes at the Drosophila Larval Neuromuscular Junction Using Proximity Ligation Assay
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霍格 - 詹森综合征是什么?

Gunnar Douzgos Houge1, Sofia Douzgou Houge2, Tzung-Chien Hsieh3

  • 1Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. gunnar.houge@helse-bergen.no.

European journal of human genetics : EJHG
|June 24, 2025
PubMed
概括

霍格-詹森氏综合征 (HJS) 是由蛋白酸酶2A型 (PP2A) 功能障碍引起的,导致神经发育延迟和发作. 本综述探讨了HJS亚型,重点关注PP2A.

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