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Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma
With this case report, we would like to heighten the awareness of clinicians about COL4A1 as a single-gene disorder causing cerebral small vessel disease and describe a previously unreported pathogenic missense substitution in COL4A1 (p.Gly990Val) and a new clinical presentation. We identified a het...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478326/ https://www.ncbi.nlm.nih.gov/pubmed/26120313 http://dx.doi.org/10.1159/000431309 |