One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition
Author:
Affiliation:
1. Department of Public Health and Clinical Medicine; Umeå University; Umeå Sweden
2. Department of Molecular Biology; Umeå University; Umeå Sweden
3. Department of Immunology, Genetics and Pathology; Uppsala University; Uppsala Sweden
Funder
patients’ organisations FAMY/AMYL Norr- and Västerbotten
Hjärt-Lungfonden
Västerbotten Läns Landsting
Selander' Foundation
Publisher
Wiley
Subject
Internal Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/joim.12585/fullpdf
Reference94 articles.
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2. Transthyretin Ser6 as a neutral polymorphism in familial amyloidotic polyneuropathy;Alves;Amyloid,1996
3. Prevention of transthyretin amyloid disease by changing protein misfolding energetics;Hammarstrom;Science,2003
4. Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution;Sebastiao;J Mol Biol,2001
5. Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation;Thylen;EMBO J,1993
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