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.

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