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Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

✍ Scribed by Hubert Verneuil1; Francine Bourgeois; Felix Rooij; Peter D. Siersema; J. H. P. Wilson; Bernard Grandchamp; Yves Nordmann

Publisher: Springer
Year: 1992
Tongue: English
Weight: 672 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00219182

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✦ Synopsis

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 patients (two sisters). The R292G mutation was not detected in 13 unrelated affected patients with F-PCT, so it appears to be uncommon. The possibility that the arginine 292 may participate at the active site of the enzyme is discussed. A summary of the 7 mutations/deletions found in the UROD gene with their frequency is presented.

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