Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Abstract Background Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mito...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , , , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wiley
2019-06-01
|
| Seri Bilgileri: | Molecular Genetics & Genomic Medicine |
| Konular: | |
| Online Erişim: | https://doi.org/10.1002/mgg3.654 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|