Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants ha...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Genes (Basel)
Asıl Yazarlar: Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Hermida, Álvaro, Suarez, María Unceta, Martínez-González, María Jesús, Borges, Filipa, Wintjes, Liesbeth, Kappen, Antonia, Rodenburg, Richard, Couce, María-Luz
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7563109/
https://ncbi.nlm.nih.gov/pubmed/32887222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11091028
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller