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Regulatory mechanisms of ornithin transcarbamylase and beta-glucocerebrosidase gene expression and their relevance to diagnostics
Mechanismy regulace exprese genů pro ornitin transkarbamylázu a beta-glukocerebrosidázu a jejich význam v diagnostice
dissertation thesis (DEFENDED)
Advisor: Jirsa, Milan
Date Issued: 2014
Date of defense: 18. 09. 2014
Faculty / Institute: 1. lékařská fakulta / First Faculty of Medicine
Abstract: 4 Abstrakt Konečná diagnóza d dičných metabolických poruch je obvykle určena na základ vyšet ení enzymové aktivity (což je mnohdy komplikované) a/nebo za pomoci molekulárn genetického vyšet ení. Výsledky standardní mutační ...
5 Abstract Definitive diagnosis of inherited metabolic disorders commonly depends on the measurement of enzyme activity (which is often complicated) and/or molecular genetic testing. Yet even the standard mutation analysis ...
5 Abstract Definitive diagnosis of inherited metabolic disorders commonly depends on the measurement of enzyme activity (which is often complicated) and/or molecular genetic testing. Yet even the standard mutation analysis ...