Carregando...
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shoc...
Na minha lista:
| Publicado no: | BBA Clin |
|---|---|
| Principais autores: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5124346/ https://ncbi.nlm.nih.gov/pubmed/27904835 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbacli.2016.11.004 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|