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Updated: Jun 11, 2025

Identification of the Source of Secreted Proteins in the Kidney by Brefeldin A Injection
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具有未知意义的遗传变异和同时发生的免疫球蛋白A脏病的法布里病

Huan Zhou1, Siqing Wang1, Yilin Chen1

  • 1Division of Nephrology, Department of Medicine, West China Hospital, Sichuan University, Chengdu, China.

Kidney & blood pressure research
|September 30, 2024
PubMed
概括

诊断具有未知意义的变异 (VUS) 的法布里病 (FD) 是具有挑战性的. 包括活检在内的全面评估将两种GLA变体从VUS重新分类为可能致病的,有助于FD诊断.

关键词:
费布里病是什么意思 费布里病是什么意思在GLA基因中,GLA基因被发现.免疫球蛋白A 脏病发作不知重要性的变体.

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