Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

Abstract

Dominantly inherited familial amyloidosis, Finnish type (FAF) is caused by the accumulation of a 71–amino acid amyloidogenic fragment of mutant gelsolin (GSN). FAF is common in Finland but is very rare elsewhere. In Finland and in two American families, the mutation is a G654A transition leading to an Asp to Asn substitution at residue 187. We found the… (More)
DOI: 10.1038/ng1092-157

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