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Collagen Expression in Fibroblasts with a Novel LMNA Mutation
Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. Ex...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1867458/ https://ncbi.nlm.nih.gov/pubmed/17150192 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2006.11.070 |
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