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...

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Detalles Bibliográficos
Autores principales: Plancher, Joao McONeil, Hufnagel, Robert B., Vagal, Achala, Peariso, Katrina, Saal, Howard M., Broderick, Joseph P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2015
Materias:
Published online: June, 2015
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478326/
https://www.ncbi.nlm.nih.gov/pubmed/26120313
http://dx.doi.org/10.1159/000431309

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