Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review

Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation Deficiency 23 (COXPD23). Up to now, about 20 different variants of the GTPBP3 gene have been reported; however, genotype–phenotype analysis has rarely been described. Here, we reported a 9...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Qin, Ouyang, Qianqian, Xiang, Jingjing, Li, Hong, Lv, Haitao, An, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048406/
https://www.ncbi.nlm.nih.gov/pubmed/36980825
http://dx.doi.org/10.3390/genes14030552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048406/
https://www.ncbi.nlm.nih.gov/pubmed/36980825
http://dx.doi.org/10.3390/genes14030552

Ejemplares similares