A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers

BACKGROUND: Familial amyloidosis with polyneuropathy (FAP) is an autosomal dominant disease caused by transthyretin (TTR) mutations, of which V30M (TTR c.148G > A, p.Val50Met, "Val30Met") is the most common. Swedish V30M carriers display later age at onset and lower penetrance compared...

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Detalhes bibliográficos
Main Authors: Olsson, Malin, Norgren, Nina, Obayashi, Konen, Plante-Bordeneuve, Violaine, Suhr, Ole B, Cederquist, Kristina, Jonasson, Jenni
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2945965/
https://ncbi.nlm.nih.gov/pubmed/20840742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-130
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