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Article

Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

American journal of human genetics - 1 Sept 1991

Hiltunen T, Kiuru S, Hongell V, Heliö T, Palo J, Peltonen L

Abstract excerpt

Familial amyloidosis of Finnish type (FAF) is one of the familial amyloidotic polyneuropathy (FAP) syndromes, a group of inherited disorders characterized by extracellular accumulation of amyloid and by clinical symptoms and signs of polyneuropathy. FAF, an autosomal dominant trait, belongs to those rare monogenic disorders which occur with increased frequency in the Finnish population: only single FAF cases have...

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PMID: 1652889
PMCID: PMC1683143

Genes

FAP

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Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.PMID 1652889Read ↗

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Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.Semantic proximity Read ↗

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