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Swiss patients with variegate porphyria have unique mutations.

Xiaoye X Schneider-Yin and Elisabeth I EI Minder

Swiss Med Wkly 136(31-32):515-9 (2006) PMID 16947091

Variegate porphyria (VP), also known as South African porphyria, is a low-penetrance, autosomal dominant disorder as the result of a partial deficiency of protoporphyrinogen oxidase (PPOX). Clinically, VP is characterised by photosensitivity and neurovisceral attacks whereby the two symptoms can appear separately or together in patients. VP is little known in Switzerland. In this study, we report a clinical, biochemical and mutational study of eight Swiss VP patients and their families.

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