Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

Erythropoietic protoporphyria (EPP) is a monogenic inherited disorder of the heme biosynthetic pathway due to ferrochelatase (FC) deficiency. EPP is generally considered to be transmitted as an autosomal dominant disease with incomplete penetrance, although autosomal recessive inheritance has been d...

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Bibliographic Details
Main Authors: Gouya, L., Deybach, J. C., Lamoril, J., Da Silva, V., Beaumont, C., Grandchamp, B., Nordmann, Y.
Format: Artigo
Language:Inglês
Published: 1996
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914527/
https://ncbi.nlm.nih.gov/pubmed/8571955
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