Laurent Gouya Journal of Investigative Dermatology

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Presentation transcript:

Mutations in the Ferrochelatase Gene of Four Spanish Patients with Erythropoietic Protoporphyria Laurent Gouya Journal of Investigative Dermatology Volume 111, Issue 3, Pages 406-409 (September 1998) DOI: 10.1046/j.1523-1747.1998.00327.x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 DGGE analysis of the FECH gene in four Spanish EPP families. EPP patients and carriers are indicated by solid and half-filled symbols, respectively. N, negative sample. Journal of Investigative Dermatology 1998 111, 406-409DOI: (10.1046/j.1523-1747.1998.00327.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Identification of exonic mutations in the FECH gene causing EPP. Partial sequences of the PCR-amplified genomic DNA from two EPP patients (P3 and P4) showing deletion 843delC in exon 8 (right) and point mutation 1157 A→C in exon 11 (left). N, normal sequence. Journal of Investigative Dermatology 1998 111, 406-409DOI: (10.1046/j.1523-1747.1998.00327.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions