COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) constitute one of the most abundant components of nearly all basement membranes. Accordingly, mutations in COL4A1 or COL4A2 are pleiotropic and contribute to a broad spectrum of disorders, including myopathy, glaucoma a...

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Detalles Bibliográficos
Autores principales: Kuo, Debbie S., Labelle-Dumais, Cassandre, Gould, Douglas B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459649/
https://www.ncbi.nlm.nih.gov/pubmed/22914737
http://dx.doi.org/10.1093/hmg/dds346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459649/
https://www.ncbi.nlm.nih.gov/pubmed/22914737
http://dx.doi.org/10.1093/hmg/dds346

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