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
β¦ LIBER β¦
Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family
β 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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