Mutation Analysis of Epidermolysis Bullosa in the Czech Republic

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Authors	JEŘÁBKOVÁ Barbora FAJKUSOVÁ Lenka BUČKOVÁ Hana VESELÝ Karel GAILLYOVÁ Renata
Year of publication	2008
Type	Conference abstract
MU Faculty or unit	Faculty of Science
Citation
Description	The authors present their results of analysis of the COL7A1, KRT5 and KRT14 genes in Czech epidemolysis bullosa patients at the DNA level. Analysis was performed using PCR, denaturing high performance liquid chromatography, high resolution melting analysis and direct sequencing. Determination of EB has important implication for final confirmation of diagnosis, possibility of genetic counselling and early prenatal diagnosis.