Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry

Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry

Abstract Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common pathogenic TTR mutation, is found in 3–4% of individuals of African ancestry in the United States and has been...

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Auteurs principaux: Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu, David Erbe, Emre Aldinc, Philip N. Hawkins, Julian D. Gillmore, Leland E. Hull, Julie A. Lynch, Jacob Joseph, Simina Ticau, Alexander O. Flynn-Carroll, Aimee M. Deaton, Lucas D. Ward, Themistocles L. Assimes, Philip S. Tsao, Kyong-Mi Chang, Daniel J. Rader, Kevin Fitzgerald, Akshay K. Vaishnaw, Gregory Hinkle, Paul Nioi
Format: article
Langue:EN
Publié: Nature Portfolio 2021
Sujets:
Medicine
R
Science
Q
Accès en ligne:https://doaj.org/article/5c5a6c2a17f74f718458b7ee194eb2f4
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