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Article

Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Mar 1998

Kiuru S

Abstract excerpt

Gelsolin-related familial amyloidosis, Finnish type, occurs worldwide, most likely as a result of sporadic low-frequency mutations. Two mutations at nucleotide 654 in the gelsolin gene have been demonstrated, which result in a characteristic triad of ophthalmologic, neurologic and dermatologic manifestations distinct from other amyloidoses. Some phenotypic variation, particularly in the age of onset and severity...

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PMID: 9547007
DOI: 10.3109/13506129809007291

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