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- [6] Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW MOLECULAR GENETICS AND METABOLISM REPORTS, 2014, 1 : 61 - 65
- [8] Haemochromatosis Cys282Tyr mutation in pyridoxine-responsive sideroblastic anaemia LANCET, 1997, 349 (9063): : 1475 - 1476