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Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins

15 Oct 2004

Abstract excerpt

BACKGROUND: Familial amyloidotic polyneuropathy (FAP) is caused by mutated transthyretin in which valine at position 30 is substituted by methionine (ATTR Val30Met). FAP is inherited as an autosomal dominant trait with variable penetrance. CASES: Two pairs of DNA confirmed monozygotic twin brothers, 63 and 37 years of age respectively, who are heterozygous for the ATTR Val30Met gene, have been identified in...

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PMID: 15485482
DOI: 10.1111/j.1365-2796.2004.01399.x

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