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Updated: Jun 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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罕见变异分析在多民族人群中验证了已知的ALS基因,并将ANTXR2确定为PLS中的候选者

Tess D Pottinger1,2,3, Joshua E Motelow4,5, Gundula Povysil4

  • 1Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. tdp2117@cumc.columbia.edu.

BMC genomics
|July 2, 2024
PubMed
概括

这项研究确定了一种新型的保护基因ALKBH3,用于肌缩侧面硬化症 (ALS),并发现ANTXR2和初级侧面硬化症 (PLS) 之间的潜在联系. 这些发现推动了我们对神经退行性疾病遗传学的理解.

关键词:
这就是ALS.肌缩性侧面硬化症 (AMLS) 是一种疾病.负载测试是负载测试.这就是PLS PLS.周围侧面硬化症 周围侧面硬化症分析罕见变体的分析.

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