Fol. Biol. 2015, 61, 219-226

https://doi.org/10.14712/fb2015061060219

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients

M. S. Farrag1, I. Mikula1, E. Richard2,3, V. Saudek4, H. De Verneuil2,3, Pavel Martásek1

1Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
2INSERM U1035, Bordeaux, France
3University of Bordeaux, Bordeaux, France
4University of Cambridge Metabolic Research Laboratories and MRC Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge, UK

Received July 2015
Accepted August 2015

References

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