Article
Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2009
Suhr Ole B, Andersen Oluf, Aronsson Thomas, Jonasson Jenni, Kalimo Hannu, Lundahl Christer, Lundgren Hans-Eric, Melberg Atle, Nyberg Johan, Olsson Malin, Sandberg Arne, Westermark Per
Abstract excerpt
The number of amyloidogenic transthyretin (TTR) mutations described in the literature is more than 100. However, for several mutations, the phenotype has been described in a few individuals only; thus, the knowledge of the clinical course and the outcome after therapeutical interventions such as liver transplantation is limited. We describe the phenotype associated with five rare amyloidogenic TTR mutations that...
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