Familial amyloid polyneuropathy related
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Kimiaki Utsugisawa; Hideo Tohgi; Yuriko Nagane; Munehisa Yamagata; Koh Saito; Ma
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Article
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1998
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John Wiley and Sons
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English
โ 247 KB
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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