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Original

A Rare Transthyretin Mutation (Asp18Glu) Associated with Vitreous Amyloid

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Pages 73-75 | Received 12 Dec 2006, Accepted 21 Feb 2007, Published online: 08 Jul 2009

REFERENCES

  • Booth D R, Booth S E, Persey M R, Tan S Y, Madhoo S, Pepys M B, Hawkins P N. Three new amyloidogenic TTR mutations: PRO12, GLU18, and VAL33. Neuromuscular Disord 1996; 6: s28
  • Connors L H, Yamashita T, Yazaki M, Skinner M, Benson M D. A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy. Amyloid: J Protein Folding Disord. 2004; 11: 61–66
  • Saraiva M J. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat. 2001; 17(6)493–503
  • Zeldenrust S, Gertz T, Uemichi T, et al. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation. 2003; 75(4)560–561
  • Sandgren O. Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement. Surv Ophthalmol. 1995; 40(3)173–196

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