Publication details
Mutation Analysis of Epidermolysis Bullosa in the Czech Republic
| Authors | |
|---|---|
| Year of publication | 2008 |
| Type | Conference abstract |
| MU Faculty or unit | |
| 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. |