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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...
Kaydedildi:
| Yayımlandı: | Brain Behav |
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| Asıl Yazarlar: | , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2020
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| Konular: | |
| Online Erişim: | 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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