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Updated: Feb 15, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

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通过虚假阳性SMA新生儿查测试发现的SMN1变异:治疗障碍和功能和流行病学解决方案

Brunhilde Wirth1, Joyosmita Das2, Heike Kölbel3

  • 1Institute of Human Genetics, University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany.

American journal of human genetics
|February 13, 2026
PubMed
概括

新生儿查脊髓肌缩 (SMA) 错过了两名患有罕见SMN1变异的婴儿. 这些携带新型SMN1异型的婴儿保持健康,挑战目前的诊断假设.

关键词:
一个SMN1的SMN1在SMN2中使用SMN2.一个错误的阳性遗传遗传.功能研究 功能研究遗传流行病学遗传流行病学新生儿查 新生儿查脊柱肌肉缩 脊柱肌肉缩 脊柱肌肉缩热稳定性测试试验变体解释变体解释斑马鱼模型模型

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