Article
A mouse model of familial porphyria cutanea tarda.
Proceedings of the National Academy of Sciences of the United States of America - 2 Jan 2001
Phillips J D, Jackson L K, Bunting M, Franklin M R, Thomas K R, Levy J E, Andrews N C, Kushner J P
Abstract excerpt
Approximately one-third of patients with porphyria cutanea tarda (PCT), the most common porphyria in humans, inherit a single mutant allele of the uroporphyrinogen decarboxylase (URO-D) gene. PCT associated with URO-D mutations is designated familial PCT. The phenotype is characterized by a photosensitive dermatosis with hepatic accumulation and urinary excretion of uroporphyrin and hepta-carboxylic porphyrins....
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