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Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria

Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, autosomal-dominant (AD) multisystem disorder resulting from the extracellular deposition of amyloid fibrils formed by a destabilized mutant form of transthyretin (TTR), a transport protein predominantly produced by the liver. AIM: T...

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Detalles Bibliográficos
Autores principales: Chamova, Teodora, Gospodinova, Mariana, Asenov, Ognian, Todorov, Tihomir, Pavlova, Zornitsa, Kirov, Andrey, Cherninkova, Sylvia, Kastreva, Kristina, Taneva, Ani, Blagoeva, Stanislava, Zhelyazkova, Sashka, Antimov, Plamen, Chobanov, Kaloian, Todorova, Albena, Tournev, Ivailo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024406/
https://www.ncbi.nlm.nih.gov/pubmed/35463150
http://dx.doi.org/10.3389/fneur.2022.844595