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

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.AimThe...

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Bibliographic Details
Main Authors: Teodora Chamova, Mariana Gospodinova, Ognian Asenov, Tihomir Todorov, Zornitsa Pavlova, Andrey Kirov, Sylvia Cherninkova, Kristina Kastreva, Ani Taneva, Stanislava Blagoeva, Sashka Zhelyazkova, Plamen Antimov, Kaloian Chobanov, Albena Todorova, Ivailo Tournev
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Neurology
Subjects:
ATTRv
screening
asymptomatic carrier
follow up
phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.844595/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.844595/full

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