Associated Papers
Gene-Modified Blister Fluid-Derived Mesenchymal Stromal Cells for Treating Recessive Dystrophic Epidermolysis Bullosa.
Kikuchi Y et al.
The Journal of Investigative Dermatology, 2023
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I et al.
The Australasian Journal of Dermatology, 2023
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
Chong SC et al.
The Journal of Dermatological Treatment, 2021
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
Jerábková B et al.
Journal of Dermatological Science, 2010
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC et al.
Journal of Dermatological Science, 2009
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
van den Akker PC et al.
Genetic Testing and Molecular Biomarkers, 2009
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
Sawamura D et al.
Journal of Human Genetics, 2005
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
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