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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2012
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| 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 |