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Article

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

Journal of internal medicine - 1 Mar 2011

Wahlin S, Floderus Y, Stål P, Harper P

Abstract excerpt

OBJECTIVE: To investigate the demographic, clinical, biochemical and genotypic features of patients with erythropoietic protoporphyria (EPP) in a Swedish cohort. DESIGN: Cross-sectional questionnaire, biochemical and genetic study. SETTING: Sweden. SUBJECTS: Fifty-one Swedish individuals known in 2008 to have EPP confirmed by molecular diagnosis. There were no exclusion criteria; all patients were included in the...

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PMID: 20412370
DOI: 10.1111/j.1365-2796.2010.02236.x

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