A carregar...
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA(Leu (UUR)) (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencin...
Na minha lista:
| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6123423/ https://ncbi.nlm.nih.gov/pubmed/30210801 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0026-6 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|