COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

Collagen, type IV, alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature. COL4A1 mutations are an increasingly recognized cause of multisystem disorders, including highly penetrant cerebrovascular disea...

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Autors principals: Jeanne, Marion, Labelle-Dumais, Cassandre, Jorgensen, Jeff, Kauffman, W. Berkeley, Mancini, Grazia M., Favor, Jack, Valant, Valerie, Greenberg, Steven M., Rosand, Jonathan, Gould, Douglas B.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257894/
https://ncbi.nlm.nih.gov/pubmed/22209247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.022
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