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Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family

✍ Scribed by Dr. Tomoyuki Uemichi; Dr. Satoshi Ueno; Harutoshi Fujimura; Tadashi Umekage; Shiro Yorifuji; Yuji Matsuzawa; Seiichiro Tarui


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
868 KB
Volume
15
Category
Article
ISSN
0148-639X

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A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine

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