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Updated: May 12, 2026

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与罕见疾病CDG相关的潜在NGLY1突变的功能预测

Shuying Yuan1, Yanwen Chen1, Lin Zou2

  • 1School of Medical Technology and Information Engineering, Zhejiang Chinese Medical University, Hangzhou, 310053, Zhejiang Province, China.

Heliyon
|April 17, 2024
PubMed
概括

一个新的预测模型和体外测试可以快速识别致病性NGLY1突变,导致先天性脱糖化乱 (NGLY1-CDDG). 这种方法有助于在罕见遗传疾病中快速做出临床决定.

关键词:
脱糖化脱糖化是一种脱糖化.酶活性的酶活性.获得功能突变的收益在 PNG 中使用 PNGase.罕见疾病是一种罕见的疾病.

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