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Article

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

BMC medical genetics - 14 Sept 2010

Olsson Malin, Norgren Nina, Obayashi Konen, Plante-Bordeneuve Violaine, Suhr Ole B, Cederquist Kristina, Jonasson Jenni

Abstract excerpt

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 to other populations. METHODS: In the study, 130 Swedish V30M carriers (32 early, 30 late onset and 68 asymptomatic carriers) and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20840742
DOI: 10.1186/1471-2350-11-130
PMCID: PMC2945965

Genes

TTR
FAP

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.PMID 20840742Read ↗

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