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Updated: May 29, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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FBN2病原性突变在先天性合性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾性尾

Yazhou Huang1, Xingxin Fang1, Linya Ma1

  • 1Department of Medical Genetics, Changde Hospital, Xiangya School of Medicine, Central South University (The First People's Hospital of Changde City), 818 Renmin Road, Wuling District, Changde, Hunan 415000, China.

Molecular genetics and metabolism reports
|February 6, 2025
PubMed
概括

在先天性收缩性arachnodactyly (CCA) 中发现了纤维素-2 (FBN2) 基因中的新型误解变异. 这种FBN2变体改变了蛋白质结构,但没有影响mRNA剪接,扩大了已知的CCA的致病谱.

关键词:
遗传性结合性形形形形症在FBN2中,FBN2是FBN2.桑格尔测序是什么意思拼接 拼接 拼接 拼接整体外基因组测序的测序

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