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The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans
Author(s) -
Candida Cristina Quarta,
Joel N. Buxbaum,
Amil M. Shah,
Rodney H. Falk,
Brian Claggett,
Dalane W. Kitzman,
Thomas H. Mosley,
Kenneth R. Butler,
Eric Boerwinkle,
Scott D. Solomon
Publication year - 2014
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1404852
Subject(s) - transthyretin , medicine , valine , cardiomyopathy , amyloid (mycology) , isoleucine , heart failure , endocrinology , genetics , amino acid , pathology , leucine , biology
Approximately 4% of black Americans carry a valine-to-isoleucine substitution (V122I) in the transthyretin protein, which has been associated with late-onset restrictive amyloid cardiomyopathy and increased risks of death and heart failure.

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