Učitavanje...
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
OBJECTIVE: To describe the clinical and functional consequences of 1 novel and 1 previously reported truncating MT-ATP6 mutation. METHODS: Three unrelated probands with mitochondrial encephalomyopathy harboring truncating MT-ATP6 mutations are reported. Transmitochondrial cybrid cell studies were us...
Spremljeno u:
| Izdano u: | Neurol Genet |
|---|---|
| Glavni autori: | , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer
2020
|
| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6984135/ https://ncbi.nlm.nih.gov/pubmed/32042910 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000381 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|