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Amyloid
The Journal of Protein Folding Disorders
Volume 21, 2014 - Issue 1
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Research Article

Frequency of the transthyretin Val30Met mutation in the northern Swedish population

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Pages 18-20 | Received 27 May 2013, Accepted 11 Oct 2013, Published online: 06 Feb 2014

References

  • Saraiva MJ, Birken S, Costa PP, Goodman DS. Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Ann NY Acad Sci 1984;435:86–100
  • Holmgren G, Costa PM, Andersson C, Asplund K, Steen L, Beckman L, Nylander PO, et al. Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet 1994;31:351–4
  • Olsson M, Norgren N, Obayashi K, Plante-Bordeneuve V, Suhr OB, Cederquist K, Jonasson J. A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers. BMC Med Genet 2010;11:130–6
  • Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995;60:512–21
  • Hellman U, Alarcon F, Lundgren HE, Suhr OB, Bonaiti-Pellie C, Plante-Bordeneuve V. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 2008;15:181–6
  • Plante-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, Misrahi M, Said G, et al. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003;40(11):e120–6
  • Holmgren G, Ando Y, Wikström L, Rydh A, Suhr O. Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR met 30). Amyloid 1997;4:178–80

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