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Autor:
Mariana Gospodinova, Sashka Zhelyazkova, Teodora Chamova, Ognyan Asenov, Zornitsa Pavlova, Tihomir Todorov, Dilyana Mikova, Yordan Palashev, Ivan Gruev, Atanas Kundurdjiev, Albena Todorova, Ivailo Tournev
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals—three of them symptomatic. Only one family with the same variant and with
Externí odkaz:
https://doaj.org/article/ab541b81920840ab91ddcdfec188467a