Yüklüyor......

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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Brain Behav
Asıl Yazarlar: You, Cuiping, Xu, Na, Qiu, Shiyan, Li, Yufen, Xu, Liyun, Li, Xia, Yang, Li
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2020
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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!