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Updated: Jun 15, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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德诺沃深层内在ELANE突变导致严重的先天性中性质减退症

Zhou Shu1, Mengyue Deng1, Tongxin Han1

  • 1Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No. 56 Nanlishi Road, Beijing, 100045, China.

Journal of clinical immunology
|August 22, 2024
PubMed
概括

这项研究报告了ELANE基因中第一个新的深层内基突变,导致严重的先天性中性质疏松症 (SCN). 这一发现强调了研究深层内区域对于SCN诊断的重要性.

关键词:
在ELANE的突变中.深层内部突变的发生.严重的中性质衰减症.

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Exon Recombination02:32

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