Cargando…

Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases

BACKGROUND: Mitochondrial disease (MD) is genetically a heterogeneous group of disorders with impairment in respiratory chain complexes or pathways associated with the mitochondrial function. Nowadays, it is still a challenge for the genetic screening of MD due to heteroplasmy of mitochondrial genom...

Descripción completa

Detalles Bibliográficos
Autores principales: Sun, Chong, Wu, Shengyang, Chen, Ruiguo, Liu, Junwu, Wang, Jiasen, Ma, Yanyun, Yuan, Zhulin, Li, Yuezhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184660/
https://www.ncbi.nlm.nih.gov/pubmed/35388601
http://dx.doi.org/10.1002/mgg3.1943