Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic

Warning

This publication doesn't include Institute of Computer Science. It includes Central European Institute of Technology. Official publication website can be found on muni.cz.

Authors	KOPEČKOVÁ Lenka BUČKOVÁ Hana KÝROVÁ Jana GAILLYOVÁ Renata NĚMEČKOVÁ Jitka JEŘÁBKOVÁ Barbora VESELÝ Karel STEHLÍKOVÁ Kristýna FAJKUSOVÁ Lenka
Year of publication	2016
Type	Article in Periodical
Magazine / Source	British Journal of Dermatology
MU Faculty or unit	Central European Institute of Technology
Citation
Web	http://onlinelibrary.wiley.com/doi/10.1111/bjd.14370/epdf
Doi	http://dx.doi.org/10.1111/bjd.14370
Field	Dermatovenerology
Keywords	PEELING SKIN SYNDROME; MUTATIONS; CLASSIFICATION; SIMPLEX; GENE
Attached files	1354180.pdf
Description	Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blister formation. Classification of patients with EB begins with their separation into one of the four major EB groups, based on the level to which blisters develop: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. The next level of subclassification takes into account the clinical features present in a given patient, most notably the distribution and severity of cutaneous and extracutaneous disease involvement.
Related projects:	Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu