Article
Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jan 2015
Jacobson Daniel R, Alexander Alice A, Tagoe Clement, Buxbaum Joel N
Abstract excerpt
BACKGROUND: Transthyretin (TTR) V122I (rs76992529) is one of 111 variants caused by point mutations in the coding sequence of the human TTR gene that are associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in codon 142(122 of the mature protein) of the gene and has been described almost exclusively in people of African descent. Several series have reported allele...
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