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Title
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
Authors
To-Figueras, J; Phillips, J D; Gonzalez-López, J M; Badenas, C; Madrigal, I; González-Romarís, E M; Ramos, C; Aguirre, J M; Herrero, C
Abstract
Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria that results from a deficiency of uroporphyrinogen decarboxylase (UROD). The disease is caused by homoallelism or heteroallelism for mutations in the UROD gene.
Publication
The British journal of dermatology, 2011, Vol 165, Issue 3, p499