Article
Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria.
The British journal of dermatology - 1 Sept 2002
Morris S D, Mason N G, Elder G H, Hawk J L M, Sarkany R P E
Abstract excerpt
It has recently been shown that most cases of clinically overt erythropoietic protoporphyria (EPP) result from coinheritance of a mutated ferrochelatase gene and a commonly occurring low-expression normal variant allele. The identification of two polymorphic variant sequences associated with this low-expression allele now enables improved predictive counselling for couples where one partner has EPP. We describe a...
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