Načítá se...
Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease
PURPOSE OF REVIEW: Primary Mitochondrial Disease (PMD) are a genetically and phenotypically diverse group of inherited energy deficiency disorders caused by impaired mitochondrial oxidative phosphorylation (OXPHOS) capacity. Mutations in more than 350 genes in both mitochondrial and nuclear genomes...
Uloženo v:
| Vydáno v: | Curr Opin Pediatr |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2018
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6467265/ https://ncbi.nlm.nih.gov/pubmed/30199403 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOP.0000000000000686 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|