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Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene

✍ Scribed by J. To-Figueras; J.D. Phillips; J.M. Gonzalez-López; C. Badenas; I. Madrigal; E.M. González-Romarís; C. Ramos; J.M. Aguirre; C. Herrero

Book ID
108671848
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
398 KB
Volume
165
Category
Article
ISSN
0007-0963

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A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion have been found in a pedigree with two HEP pa

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