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Updated: Jun 4, 2025

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在PIKFYVE中的遗传变异:眼睛表型的综述

Ehsan Misaghi1, Peter Kannu2, Ian M MacDonald3

  • 1Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada; Department of Medical Genetics, University of Alberta, Edmonton, Canada.

Experimental eye research
|December 18, 2024
PubMed
概括

PIKFYVE的遗传变异与各种眼睛疾病有关,包括角膜斑点和先天性白内障. 本综述详细介绍了这些PIKFYVE变体及其眼睛表型,有助于未来的诊断和治疗.

关键词:
自自是一种自的过程.出生性白内障是一种先天性白内障.角膜斑点缩症 角膜斑点缩症这是内分泌体路径的内分泌体路径.眼睛遗传学 眼睛遗传学在PIKFYVEVE中使用PIKFYVE.发细胞症 (phagocytosis) 是一种致死细胞的发生.

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