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A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation
INTRODUCTION: G elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we present a novel composition of two heterozygous mutations of G...
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| 出版年: | Brain Behav |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7559602/ https://ncbi.nlm.nih.gov/pubmed/32776492 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.1791 |
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