Swiss patients with variegate porphyria have unique mutations | Zendy

Xiaoye SchneiderYin | Zendy; Elisabeth I. Minder | Zendy

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Swiss patients with variegate porphyria have unique mutations

Author(s) -

Xiaoye SchneiderYin,

Elisabeth I. Minder

Publication year - 2006

Publication title -

schweizerische medizinische wochenschrift

Language(s) - English

Resource type - Journals

ISSN - 0036-7672

DOI - 10.4414/smw.2006.11472

Subject(s) - protoporphyrinogen oxidase , medicine , porphyria , penetrance , acute intermittent porphyria , cohort , population , mutation , pediatrics , genetics , gastroenterology , phenotype , gene , biology , environmental health

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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