Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt)

@article{Sikora2014GeneticVO,
  title={Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt)},
  author={Jacquelyn L. Sikora and Mark W Logue and Gloria G Chan and Brian H Spencer and Tatiana B Prokaeva and Clinton T. Baldwin and David C. Seldin and Lawreen H Connors},
  journal={Human Genetics},
  year={2014},
  volume={134},
  pages={111-121}
}
Wild-type transthyretin amyloidosis (ATTRwt), typically diagnosed as congestive heart failure in elderly Caucasian men, features myocardial amyloid deposits of wild-type plasma protein transthyretin (TTR). ATTRwt is sporadic, its pathogenesis is poorly understood, and currently there are no biomarkers for diagnosis or prognosis. Genetic studies of variant-associated transthyretin amyloidosis have suggested that non-coding TTR gene variants modulate disease. We hypothesized that cis-acting… CONTINUE READING
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