JEŘÁBKOVÁ, Barbora, Lenka FAJKUSOVÁ, Hana BUČKOVÁ, Jiří VESELÝ and Renata GAILLYOVÁ. Mutation Analysis of Epidermolysis Bullosa Simplex in the Czech republic. In 1st World Congress on Genodermatology. Netherlands: Neuveden, 2007, p. 16.
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Basic information
Original name Mutation Analysis of Epidermolysis Bullosa Simplex in the Czech republic
Name in Czech Mutační analýza Epidermolysis bullosa simplex v České republice
Authors JEŘÁBKOVÁ, Barbora, Lenka FAJKUSOVÁ, Hana BUČKOVÁ, Jiří VESELÝ and Renata GAILLYOVÁ.
Edition Netherlands, 1st World Congress on Genodermatology, p. 16-16, 2007.
Publisher Neuveden
Other information
Original language English
Type of outcome Proceedings paper
Field of Study Genetics and molecular biology
Country of publisher Netherlands
Confidentiality degree is not subject to a state or trade secret
Organization unit Faculty of Medicine
Keywords in English Epidermolysis bullosa simplex
Tags Epidermolysis bullosa simplex
Changed by Changed by: Marcela Šefčíková, učo 46332. Changed: 21/1/2008 15:52.
Abstract
The authors present the molecular-genetic findings in 18 epidermolysis bullosa simplex families. Analysis of KRT5 and KRT14 genes was performed at the DNA level using PCR and sequencing analysis.
Abstract (in Czech)
Autoři prezentují výsledky molekulárně-genetické analýzy v 18 rodinách s výskytem onemocnění Epidermolysis bullosa simplex. Analýza genů KRT5 a KRT14 byla provedena na úrovni DNA s využitím PCR a sekvenační analýzy.
Links
NR9346, research and development projectName: Zavedení komplexní diagnostiky epidermolysis bullosa congenita v ČR
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