Recessive inheritance of erythropoietic protoporphyria with liver failure.

doi:10.1016/s0140-6736(94)92525-9

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Article

Recessive inheritance of erythropoietic protoporphyria with liver failure.

Lancet (London, England) - 4 Jun 1994

Sarkany R P, Alexander G J, Cox T M

Abstract excerpt

Erythropoietic protoporphyria is characterised by skin photosensitivity and deficiency of ferrochelatase; fatal liver disease occurs rarely. Transmission is considered to be dominant with incomplete penetrance. We investigated a family in which two siblings with erythropoietic protoporphyria deve...

Topics

Adolescent
Female
Ferrochelatase
Genes, Recessive
Heterozygote
Humans
Liver Failure
Liver Transplantation
Male
Mutation
Porphyria, Hepatoerythropoietic

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