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Published in 2018 at "Journal of Cardiac Failure"
DOI: 10.1016/j.cardfail.2018.07.326
Abstract: Introduction Familial transthyretin (TTR) amyloidosis is a rare disorder characterized primarily by progressive neuropathy and cardiomyopathy. The source of amyloid protein is the liver, thus early liver transplantation can significantly slow disease progression. Unfortunately, for…
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Keywords:
ttr amyloidosis;
ttr;
liver transplant;
amyloidosis ... See more keywords
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Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.95
Abstract: Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype–phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms.…
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Keywords:
coding variants;
ttr amyloidosis;
non coding;
amyloidosis ... See more keywords
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Published in 2021 at "Vestnik oftalmologii"
DOI: 10.17116/oftalma2021137052231
Abstract: The term systemic amyloidosis unites a group of diseases with a single pathogenetic mechanism involving diffuse deposition of a pathological fibrillar protein (amyloid) in the intercellular space of various organs. Among the systemic forms of…
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Keywords:
microscopy;
ttr amyloidosis;
amyloidosis;
state corneal ... See more keywords