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Updated: Jan 18, 2026

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在患有婴儿肝功能障碍的患者中,对新型和复发的RINT1变异进行功能分析

Taiga Aoki1,2, Ayano Inui3, Yoshiyasu Ogata4

  • 1Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.

Journal of human genetics
|September 12, 2025
PubMed
概括

在RINT1的致病变体引起肝病通过破坏内细胞网膜 (ER) 连接,损害自,并激活未折叠的蛋白质反应 (UPR). 这导致肝脏肥胖症,纤维化和脂质代谢异常.

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