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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...
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| Publicat a: | BBA Clin |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2016
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| Matèries: | |
| Accés en línia: | 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 |
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