Article
[Gene analysis of Japanese patients with familial amyloidotic polyneuropathy type IV].
Rinsho shinkeigaku = Clinical neurology - 1 Aug 1992
Sunada Y, Nakase H, Shimizu T, Mannen T, Kanazawa I
Abstract excerpt
Familial amyloidotic polyneuropathy type IV (FAP IV) is clinically characterized by slowly progressive cranial neuropathy and corneal lattice dystrophy. More than 300 cases were clustered in the Finnish population. Recent biochemical studies have demonstrated that the amyloid fibril protein in FAP IV is related to Asn-187 variant gelsolin, and the corresponding missense mutation, a G to A substitution at...
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