A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Cited by 47 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset;Journal of the Peripheral Nervous System;2023-06-18
2. A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy);Scientific Reports;2019-12
3. Myelination key factor krox‐20 is downregulated in Schwann cells and murine sciatic nerves infected byMycobacterium leprae;International Journal of Experimental Pathology;2019-04
4. Regulation of Peripheral Myelination through Transcriptional Buffering of Egr2 by an Antisense Long Non-coding RNA;Cell Reports;2017-08
5. Resequencing of early growth response 2 (EGR2) gene revealed a recurrent patient-specific mutation in schizophrenia;Psychiatry Research;2015-08
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