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TTR Ile 20, a new variant associated with cardiac amyloidosis

โœ Scribed by Daniel R. Jacobson; Robert A. Kyle; Joel N. Buxbaum


Book ID
116168675
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
76 KB
Volume
6
Category
Article
ISSN
0960-8966

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๐Ÿ“œ SIMILAR VOLUMES


Transthyretin Pro55, a variant associate
โœ Daniel R. Jacobson; Dale E. McFarlin; Immaculata Kane; Joel N. Buxbaum ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 349 KB

Mutations in the protein transthyretin cause amyloidosis involving the heart, peripheral nerves, and other organs. A family from West Virginia developed an unusually aggressive form of widespread transthyretin amyloidosis. Single-strand conformation polymorphism analysis revealed a variant in the tr