Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyr...
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias
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Heidelberg: Springer
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Language
English
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Heidelberg: Springer
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We have recently demonstrated that in an autosomal dominant porphyria, erythropoietic protoporphyria (EPP), the coinheritance of a ferrochelatase (FECH) gene defect and of a wild-type low-expressed FECH allele is generally involved in the clinical expression of EPP. This mechanism may provide a model for phenotype modulation by minor variations in...
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Full title
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias
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TN_cdi_proquest_miscellaneous_80124171
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_80124171
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ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-003-1059-5
