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Amyloid
The Journal of Protein Folding Disorders
Volume 21, 2014 - Issue 2
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Research Article

Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred

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Pages 110-112 | Received 13 Nov 2013, Accepted 27 Jan 2014, Published online: 06 Mar 2014

References

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  • Taira M, Ishiura H, Mitsui J, Takahashi Y, Hayashi T, Shimizu J, Matsukawa T, et al. Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type. Neurogenetics 2012;13:237–43
  • Sethi S, Vrana JA, Theis JD, Leung N, Sethi A, Nasr SH, Fervenza FC, et al. Laser microdissection and mass spectrometry-based proteomics aids the diagnosis and typing of renal amyloidosis. Kidney Int 2012;82:226–34
  • Ardalan MR, Shoja MM, Kiuru-Enari S. Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East. Nephrol Dial Transplant 2007;22:272–5
  • Maury CP, Kere J, Tolvanen R, de la Chapelle A. Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. Genomics 1992;13:902–3
  • Sethi S, Theis JD, Quint P, Maierhofer W, Kurtin PJ, Dogan A, Highsmith EW Jr. Renal amyloidosis associated with a novel sequence variant of gelsolin. Am J Kidney Dis 2013;61:161–6

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