✦ LIBER ✦

A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy

✍ Scribed by H.H Goebel; S Seddigh; H.C Hopf; T Uemichi; M.D Benson; V.A McKusick

Book ID: 117670692
Publisher: Elsevier Science
Year: 1997
Tongue: English
Weight: 32 KB
Volume: 7
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(97)00446-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Transthyretin gene analysis in European

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy

✍ M.M. Reilly; D. Adams; D.R. Booth; M.B. Davis; G. Said; M. Laubriat-Bianchin; M. 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 71 KB

Familial amyloid polyneuropathy related

Familial amyloid polyneuropathy related to transthyretin mutation VaL30 to Leu in a Japanese family

✍ Kimiaki Utsugisawa; Hideo Tohgi; Yuriko Nagane; Munehisa Yamagata; Koh Saito; Ma 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 247 KB 👁 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

A novel transthyretin mutation associate

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy

✍ Tatsufumi Murakami; Shuichiro Maeda; Shigehiro Yi; Shinichi Ikegawa; Eiji Kawash 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 490 KB

Transthyretin Val71Ala mutation in a Dut

Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

✍ Haagsma, Elizabeth B.; Scheffer, Hans; Altland, Klaus; De Jager, Aeiko E. J.; Ha 📂 Article 📅 2000 🏛 Informa plc 🌐 English ⚖ 329 KB

Familial amyloid polyneuropathy related

Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family

✍ Dr. Tomoyuki Uemichi; Dr. Satoshi Ueno; Harutoshi Fujimura; Tadashi Umekage; Shi 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 868 KB

Transthyretin Val 107 in a Japanese pati

Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy

✍ Kazunori Nanri; Hiroya Utsumi; Masahito Yamada; Yoshifumi Takata; Atsushi Matsum 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 173 KB