Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic
| Autor: | Karel Veselý, Lenka Kopečková, Barbora Jeřábková, Kristýna Stehlíková, Hana Bučková, Renata Gaillyová, Jana Kýrová, Lenka Fajkusová, Jitka Němečková |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
0301 basic medicine Heterozygote Pathology medicine.medical_specialty Adolescent RNA Splicing Dermatology Inteins Kindler syndrome Young Adult 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Dna genetics medicine Humans Czech Republic Heterogeneous group integumentary system EB simplex business.industry Homozygote Proteins DNA Exons Sequence Analysis DNA medicine.disease 3. Good health Peeling skin syndrome Phenotype 030104 developmental biology Genes Mutation Epidermolysis bullosa Epidermolysis Bullosa business |
| Zdroj: | British Journal of Dermatology. 174:1388-1391 |
| ISSN: | 1365-2133 0007-0963 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text