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Jones, F. E. et al. (2019) 4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease. Human Molecular Genetics, 28(4), pp. 628-638. (doi: 10.1093/hmg/ddy369) (PMID:30351356) (PMCID:PMC6360271)
Jones, F. E. et al. (2016) ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice. Disease Models and Mechanisms, 9(2), pp. 165-76. (doi: 10.1242/dmm.021741) (PMID:26839400) (PMCID:PMC4770143)
Rannikmäe, K. et al. (2015) Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology, 84(9), pp. 918-926. (doi: 10.1212/WNL.0000000000001309) (PMID:25653287) (PMCID:PMC4351667)