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Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy

โœ Scribed by Kazunori Nanri; Hiroya Utsumi; Masahito Yamada; Yoshifumi Takata; Atsushi Matsumura; Kazusa Kougo; Shigeo Sekine; Daisaku Ogawa; Mitsuyasu Toyoda


Book ID
119465594
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
173 KB
Volume
198
Category
Article
ISSN
0022-510X

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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