A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene

The deoxyguanosine kinase (DGUOK) gene controls mitochondrial DNA (mtDNA) maintenance, and variation in the gene can alter or abolish the anabolism of mitochondrial deoxyribonucleotides. A Chinese female infant, whose symptoms included weight stagnation, jaundice, hypoglycemia, coagulation disorders...

Descripción completa

Detalles Bibliográficos
Autores principales: Fang, Weiyuan, Song, Peng, Xie, Xinbao, Wang, Jianshe, Lu, Yi, Li, Gang, Abuduxikuer, Kuerbanjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663597/
https://www.ncbi.nlm.nih.gov/pubmed/29137425
http://dx.doi.org/10.18632/oncotarget.20905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663597/
https://www.ncbi.nlm.nih.gov/pubmed/29137425
http://dx.doi.org/10.18632/oncotarget.20905

Ejemplares similares