[The HLA and protease inhibitor (Pi) system in erythropoietic (hepatic) protoporphyria. Family studies].

Article

[The HLA and protease inhibitor (Pi) system in erythropoietic (hepatic) protoporphyria. Family studies].

Gastroenterologisches Journal : Organ der Gesellschaft fur Gastroenterologie der DDR - 1 Jan 1990

Köstler E, Gebhardt B, Knapp A, Grimm U, Töppich D

Abstract excerpt

Relations between porphyrias (porphyria cutanea tarda, variegate porphyria) and HLA- or protease inhibitor (Pi-) system were repeatedly found or supposed. Corresponding investigations do not exist for erythropoietic protoporphyria (EP), for which an autosomal dominant mode of inheritance with highly varying expressiveness (additional genes?) is being discussed. Three families with five EP-patients were examined...

Topics

Erythrocytes
Genetic Carrier Screening
Genetic Markers
HLA Antigens
HLA-A3 Antigen
Humans
Iron
Liver Diseases
Pedigree
Phenotype
Porphyrias

Porphyrins

Protease Inhibitors

Protoporphyrins

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