Article

Peripheral blood<i>GATA2</i>expression impacts<i>RNF213</i>mutation penetrance and clinical severity in moyamoya disease

2024-06-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The p.R4810K founder mutation in the RNF213 gene confers susceptibility to moyamoya disease (MMD) and non-MMD intracranial artery disease. However, penetrance is incomplete, and the underlying molecular mechanism remains unknown. <h4>Methods and Results</h4> Transcriptome analysis of peripheral blood was conducted with 9 MMD patients and 5 unaffected mutation carriers from 4 f...

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Literature Corpus work: b95811d5-b392-5db8-8595-b85b2626c199
DOI: 10.1101/2024.06.22.24306750

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