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Hledání genetických a molekulárních příčin familiární formy SAA amyloidózy / Identification of genetic and molecular underpinnings of familiar form of SAA amyloidosis

This work documents the first case of idiopathic AA amyloidosis in humans caused by mutation in the promoter region of SAA1 gene. Knowledge of the mechanism of the disease may be an indication for targeted treatment in the future. Mutations in the SAA1 promoter should be considered in all cases of idiopathic forms of AA amyloidosis in which neither the immune nor the inflammatory component of the disease are clearly present.

Identiferoai:union.ndltd.org:nusl.cz/oai:invenio.nusl.cz:436133
Date January 2020
CreatorsKmochová, Tereza
ContributorsHodaňová, Kateřina, Froňková, Eva
Source SetsCzech ETDs
LanguageCzech
Detected LanguageEnglish
Typeinfo:eu-repo/semantics/masterThesis
Rightsinfo:eu-repo/semantics/restrictedAccess

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