Authors:
Rogounovitch, T
Takamura, N
Hombrados, I
Morel, C
Tanaka, T
Kameyoshi, Y
Shimizu-Yoshida, Y
de Verneuil, H
Yamashita, S
Citation: T. Rogounovitch et al., Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient, J INVES DER, 115(6), 2000, pp. 1156-1156
Authors:
Christiansen, L
Ged, C
Hombrados, I
Brons-Poulsen, J
Fontanellas, A
de Verneuil, H
Horder, M
Petersen, NE
Citation: L. Christiansen et al., Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterizationof six novel mutations associated with familial PCT, HUM MUTAT, 14(3), 1999, pp. 222-232