skin photosensitivity
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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. Farrag, J. Kučerová, L. Šlachtová, O. Šeda, J. Šperl, Pavel Martásek
2015, Vol. 61, Issue 6, pp. 227-232 -
Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients
M. S. Farrag, I. Mikula, E. Richard, V. Saudek, H. De Verneuil, Pavel Martásek
2015, Vol. 61, Issue 6, pp. 219-226