A carregar...
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
INTRODUCTION: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early‐onset myopathy with lactic acidosis and sideroblastic anaemia. MLASA has been associated with a missense mutation in pseudouridylate synthase 1 (PUS1), an enzyme located in both nucleus...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2007
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2598032/ https://ncbi.nlm.nih.gov/pubmed/17056637 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045252 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|