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Identification of a novel transthyretin variant (Val30→Leu) associated with familial amyloidotic polyneuropathy

✍ Scribed by Masamitsu Nakazato; Shu-ichi Ikeda; Kazutaka Shiomi; Shigeru Matsukura; Kunihiro Yoshida; Hideaki Shimizu; Tetsushi Atsumi; Kenji Kangawa; Hisayuki Matsuo


Book ID
115926678
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
311 KB
Volume
306
Category
Article
ISSN
0014-5793

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Amyloidosis is characterised by the extracellular deposition of certain different proteins in a distinctively abnormal fibrillar conformation. All types of amyloid fibril share remarkably similar structural and biophysical properties despite substantial chemical heterogeneity among their respective