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A Novel Apolipoprotein A-1 Variant, Arg173Pro, Associated with Cardiac and Cutaneous Amyloidosis

✍ Scribed by Kamran Hamidi Asl; Juris J. Liepnieks; Masaaki Nakamura; Frank Parker; Merrill D. Benson

Book ID
115583625
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
139 KB
Volume
257
Category
Article
ISSN
0006-291X

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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