Article
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
The Journal of investigative dermatology - 1 Apr 1995
Roberts A G, Elder G H, De Salamanca R E, Herrero C, Lecha M, Mascaro J M
Abstract excerpt
Hepatoerythropoietic porphyria is a severe cutaneous porphyria caused by deficiency of uroporphyrinogen decarboxylase and is considered to be the homozygous form of familial (type II) porphyria cutanea tarda. To elucidate further the relation between these conditions, we studied five Spanish families with hepatoerythropoietic porphyria and nine unrelated Spanish patients with familial porphyria cutanea tarda....
Topics
- Base Sequence
- Humans
- Molecular Sequence Data
- Mutation
- Porphyria Cutanea Tarda
- Porphyria, Hepatoerythropoietic
- Uroporphyrinogen Decarboxylase