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Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria

✍ Scribed by R. Nezamzadeh; A. Seubert; J. Pohlenz; B. Brenig

Book ID: 108633204
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 285 KB
Volume: 36
Category: Article
ISSN: 0268-9146
DOI: 10.1111/j.1365-2052.2005.01301.x

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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