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FC103 A genetic study in erythropoietic protoporphyria

✍ Scribed by I. Horkay; E. Remenyik; M.R. Moore; G.W. Lanyon


Book ID
118604386
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
125 KB
Volume
9
Category
Article
ISSN
0926-9959

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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 lo