Abstract
The search for the fundamental defect in the various forms of epidermolysis bullosa (EB) has relied on careful clinical, histologic, and biochemical analysis of the skin of patients. Although many detailed analyses have been performed, thus far they have not demonstrated convincingly what primary genetic abnormality underlies the skin disease. Despite remarkable insights into a few diseases (e.g., mutant hemoglobins in sickle cell disease, decreased enzyme activity in some porphyrias, etc.) this situation in EB has been similar to the status of investigation of most other hereditary disorders, both cutaneous and extracutaneous.
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© 1992 Springer-Verlag New York, Inc.
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Epstein, E.H. (1992). Linkage Studies in Epidermolysis Bullosa. In: Lin, A.N., Carter, D.M. (eds) Epidermolysis Bullosa. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-2914-8_5
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DOI: https://doi.org/10.1007/978-1-4612-2914-8_5
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