Fol. Biol. 2015, 61, 227-232

https://doi.org/10.14712/fb2015061060227

A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease

M. S. Farrag1, J. Kučerová1, L. Šlachtová1, O. Šeda2, J. Šperl3, Pavel Martásek1

1Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
2Institute of Biology and Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
3Department of Hepatogastroenterology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic

Received July 2015
Accepted August 2015

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