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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Figure 1

Pedigrees of VP families carrying partial PPOX deletion. Pedigrees of the five families carrying partial PPOX deletion with DNA results and markers for biochemical symptoms. In families A-D affected members carry an exon 5–6 deletion. In family E the patient carries an exon 5–9 deletion. Members in family A-D for whom neither biochemical nor genetic investigation were performed are omitted for simplification.

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