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Article

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families

15 Jan 2009

Abstract excerpt

BACKGROUND AND PURPOSE: Familial amyloid polyneuropathy (FAP) type I is a severe autosomal dominant inherited neuropathy associated with mutations in the transthyretin (TTR) gene. Significant phenotypic variability is seen amongst families with distinct geographic origin, especially regarding penetrance and age of onset. The aim of this study was to estimate the penetrance of FAP in Brazilian families. METHODS:...

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PMID: 19364362
DOI: 10.1111/j.1468-1331.2008.02429.x

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