Case series: clinical outcomes of the transthyretin valine-to-isoleucine mutation in a brother–sister pair

BACKGROUND: Approximately 4% of the African-American population possess a valine-to-isoleucine (V122I) substitution within the transthyretin protein that results in a tendency for a normally tetrameric protein to dissociate into misfolded, monomeric subunits. These misfolded proteins can then accumu...

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Detalles Bibliográficos
Autores principales: Liu, Jason Y, Sara, Afrida, Liu, Jar-Yee, Fan, Judith, Gupta, Pritha, Wang, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426053/
https://www.ncbi.nlm.nih.gov/pubmed/31020184
http://dx.doi.org/10.1093/ehjcr/yty108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426053/
https://www.ncbi.nlm.nih.gov/pubmed/31020184
http://dx.doi.org/10.1093/ehjcr/yty108

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