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Filamin C-related myopathies: pathology and mechanisms
The term filaminopathy was introduced after a truncating mutation in the dimerization domain of filamin C (FLNc) was shown to be responsible for a devastating muscle disease. Subsequently, the same mutation was found in patients from diverse ethnical origins, indicating that this specific alteration...
Gorde:
| Argitaratua izan da: | Acta Neuropathol |
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| Egile Nagusiak: | , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2012
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5127197/ https://ncbi.nlm.nih.gov/pubmed/23109048 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-012-1054-9 |
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