Article
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
Human genetics - 1 Jul 1992
de Verneuil H, Bourgeois F, de Rooij F, Siersema P D, Wilson J H, Grandchamp B, Nordmann Y
Abstract excerpt
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...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Aberrations
- Chromosome Deletion
- Cloning, Molecular
- DNA Mutational Analysis
- Female
- Humans
- Liver Diseases
- Molecular Sequence Data