1992-07-01
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria
Publication
Publication
Human Genetics , Volume 89 - Issue 5 p. 548- 552
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.
| Additional Metadata | |
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| doi.org/10.1007/BF00219182, hdl.handle.net/1765/58484 | |
| Human Genetics | |
| Organisation | Department of Internal Medicine |
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de Verneuil1, H., Bourgeois, F., de Rooij, F., Siersema, P., Wilson, P., Grandchamp, B., & Nordmann, Y. (1992). Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. Human Genetics, 89(5), 548–552. doi:10.1007/BF00219182 |
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