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Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family

โœ Scribed by Dr. Yoshihide Sunada; Teruo Shimizu; Hirofumi Nakase; Shigeo Ohta; Tetsuo Asaoka; Shiro Amano; Mitsuru Sawa; Yasuo Kagawa; Ichiro Kanazawa; Toru Mannen


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
611 KB
Volume
33
Category
Article
ISSN
0364-5134

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Familial amyloid polyneuropathy related
โœ Kimiaki Utsugisawa; Hideo Tohgi; Yuriko Nagane; Munehisa Yamagata; Koh Saito; Ma ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 247 KB ๐Ÿ‘ 1 views

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