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4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease

Mutations in the collagen genes COL4A1 and COL4A2 cause Mendelian eye, kidney and cerebrovascular disease including intracerebral haemorrhage (ICH), and common collagen IV variants are a risk factor for sporadic ICH. COL4A1 and COL4A2 mutations cause endoplasmic reticulum (ER) stress and basement me...

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Detalles Bibliográficos
Autores principales:	Jones, Frances E, Murray, Lydia S, McNeilly, Sarah, Dean, Afshan, Aman, Alisha, Lu, Yinhui, Nikolova, Nija, Malomgré, Ruben, Horsburgh, Karen, Holmes, William M, Kadler, Karl E, Van Agtmael, Tom
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2019
Materias:	General Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360271/ https://www.ncbi.nlm.nih.gov/pubmed/30351356 http://dx.doi.org/10.1093/hmg/ddy369

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