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Amyloid
The Journal of Protein Folding Disorders
Volume 7, 2000 - Issue 3
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Original Article

Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

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Pages 218-221 | Received 23 Sep 1999, Accepted 20 Feb 2000, Published online: 06 Jul 2009

References

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  • Almeida M do R, Lopez-Andreau F, Munar-Ques M, Costa P P, Saraiva M J. Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy. Hum Mutat 1993; 2: 420–421
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  • Connors L H, Ericsson T, Skare J, Jones L A, Lewis W D, Skinner M. A simple screening test for variant transthyretins associated with familial amyloidosis using iso electric focusing. Biochim Biophys Acta 1998; 1407: 185–192
  • Altland K, Benson M D, Ferlini A, Husby G, Linke R P, Salvi F, Saraiva M JM, Skinner M, Sletten K, Steinmetz A, Winter P. Most cases of familial amyloidotic polyneuropathy (FAP) are associated with amino acid substitutions destabilizing the folded state of transthyretin monomers. Neuromusc Disord 1996; 6: S17
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