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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2012
Pynciau:
Report
Mynediad Ar-lein: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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