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Updated: Jul 9, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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与MMACHC c.482G > A突变相关的可变表型和结果:在大型CblC疾病队列中的随访

Sheng-Nan Wu1, Hui-Shu E2, Yue Yu3

  • 1Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China.

World journal of pediatrics : WJP
|December 9, 2023
PubMed
概括

在CblC疾病中的MMACHC c.482G>A突变与较轻的症状和更好的结果有关,特别是当通过新生儿查早期诊断时. 早期发现和治疗显著改善了患者的预后.

关键词:
这是一个MMACHC基因.这是一种CblC疾病.新生儿查 新生儿查结果结果的结果.c.482G > A 一个 A 个

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