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Updated: May 7, 2025

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

Published on: April 4, 2018

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C19orf12基因变异导致线粒体膜蛋白相关的神经退行 (MPAN)

Riyanka Kumari1,2, Vikram V Holla3, Neeharika Sriram3

  • 1Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.

European journal of human genetics : EJHG
|January 4, 2025
PubMed
概括

线粒体膜蛋白相关的神经退行症 (MPAN) 是一种罕见的遗传疾病. 这项研究详细介绍了七名患者,扩大了对C19orf12基因变异和MPAN的知识.

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