Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47.

@article{Ferlini2000MutationAT,
  title={Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47.},
  author={Alessandra Ferlini and Laura Obici and Elisa Manzati and Ombretta Biadi and Enrico Tarantino and P Conigli and Giampaolo Merlini and Marc D'Alessandro and Vincenzo Mazzaferro and Carlo Alberto Tassinari and Fabrizio Salvi},
  journal={Clinical genetics},
  year={2000},
  volume={57 4},
  pages={284-90}
}
Transthyretin gene mutations are associated with autosomal dominant familial amyloidosis. The commonest phenotype in the patients is peripheral neuropathy, but restrictive cardiomyopathy is also a frequent sign. More than 70 different mutations in the gene have been described. Although these mutations are randomly distributed, some hot spots have also been reported notably at position 6, 30, 33, 58, 109, 119 and 122. A few of these codons contain a CpG dinucleotide. We describe an additional… CONTINUE READING