Article
Haplotype analysis of common transthyretin mutations.
Human genetics - 1 Sept 1995
Almeida M R, Aoyama-Oishi N, Sakaki Y, Holmgren G, Ulf D, Ferlini A, Salvi F, Munar-Oués M, Benson M D, Skinner M
Abstract excerpt
The most frequent transthyretin (TTR) variant associated with hereditary amyloidosis is TTR Met 30, which has its major focus in Portugal, although it also occurs in many other countries. The distribution of the mutation and its occurrence in a CpG dinucleotide lead us to question the origin of the mutation and the possibility of its having originated in Portugal. In order to investigate these questions, we...
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