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The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa

BACKGROUND: Transthyretin (TTR) pV142I (rs76992529‐A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I). The allele frequency is 0.0173 in A...

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Detalles Bibliográficos
Autores principales: Jacobson, Daniel R., Alexander, Alice A., Tagoe, Clement, Garvey, W. T., Williams, Scott M., Tishkoff, Sara, Modiano, David, Sirima, Sodiomon B., Kalidi, Issa, Toure, Amadou, Buxbaum, Joel N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023940/
https://www.ncbi.nlm.nih.gov/pubmed/27652282
http://dx.doi.org/10.1002/mgg3.231