Article
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type.
Biochemical and biophysical research communications - 26 Feb 1993
Maury C P, Rossi H
Abstract excerpt
Familial amyloidosis, Finnish type (FAF), is a dominantly inherited form of systemic amyloidosis caused by a point mutation G654 to A654 in the gelsolin gene. The mutation leads to the expression of mutant Asn-187 gelsolin and the accumulation of amyloid in tissues. Here we demonstrate that patients with FAF have an abnormal 65K gelsolin species in the circulation that cosegregates with the disease. The 65K...
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