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Updated: Jan 17, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

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与闪相关疾病的临床和基因型谱:来自跨国队列研究的见解

Piervito Lopriore1,2, Zeynep Ünlütürk1,3, Thomas Klopstock4,5,6

  • 1Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.

Neurology
|January 15, 2026
PubMed
概括

由TWNK基因突变引起的Twinkle相关疾病具有广泛的症状,主要是原发性线粒体肌肉病变. 国际合作有助于理解这些罕见的遗传疾病.

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