Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between.

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Presentation transcript:

Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between Genotype and Phenotype Charlotte B. Sørensen, Anne-Sofie Ladekjær-Mikkelsen, Brage S. Andresen, Flemming Brandrup, Niels K. Veien, Sanne K. Buus, Ingrun Anton-Lamprecht, Torben A. Kruse, Peter K.A. Jensen, Hans Eiberg, Lars Bolund, Niels Gregersen Journal of Investigative Dermatology Volume 112, Issue 2, Pages 184-190 (February 1999) DOI: 10.1046/j.1523-1747.1999.00495.x Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigrees of the five families investigated in this study. A black circle or square illustrates individuals with the disease. Unaffected individuals are represented by open symbols. Asterisks denote members of the families that have been investigated for the presence of mutations. An arrow indicates the index patients. Journal of Investigative Dermatology 1999 112, 184-190DOI: (10.1046/j.1523-1747.1999.00495.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions