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Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schröder CH, Smeets HJ. van der Loop FT, et al. Among authors: timmer ed. Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x. Kidney Int. 2000. PMID: 11044206 Free article.
Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders.
Voets AM, Lindsey PJ, Vanherle SJ, Timmer ED, Esseling JJ, Koopman WJ, Willems PH, Schoonderwoerd GC, De Groote D, Poll-The BT, de Coo IF, Smeets HJ. Voets AM, et al. Among authors: timmer ed. Biochim Biophys Acta. 2012 Nov;1817(11):1971-8. doi: 10.1016/j.bbabio.2012.07.001. Epub 2012 Jul 13. Biochim Biophys Acta. 2012. PMID: 22796146 Free article.
19 results