Article
Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics.
Experimental dermatology - 1 Apr 1999
Uitto J
Abstract excerpt
Tremendous progress has been recently made in understanding the molecular basis of epidermolysis bullosa (EB), and as of today specific mutations have been delineated in 10 distinct genes in different subtypes of this genodermatosis. Molecular diagnostics of EB has implications for improved classification with prognostic significance, refined genetic counseling, and establishment of DNA-based prenatal testing....
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