| 1 | CYP1A2, PCT1, UROD
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| Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda.
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| Christiansen L, Bygum A, Jensen A, Thomsen K, Brandrup F, Horder M, Petersen NE.
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| Hum Genet 107(6):612-4. 2000
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| 2 | HFE, PCT1, UROD
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| Familial porphyria cutanea tarda : characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
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| Mendez M, Sorkin L, Rossetti MV, Astrin KH, del C Batlle AM, Parera VE, Aizencang G, Desnick RJ.
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| Am J Hum Genet 63 : 1363-1375. 1998
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| 3 | PCT1, UROD
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| Uroporphyrinogen decarboxylase : complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
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| Moran-Jimenez MJ, et al.
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| Am J Hum Genet 58 : 712-721. 1996
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| 4 | PCT1, UROD
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| Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
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| McManus JF, et al.
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| Blood 88 : 3589-3600. 1996
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| 5 | PCT1, UROD
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| Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
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| Verneuil H de, et al.
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| Hum Genet 89 : 548-552. 1992
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| 6 | PCT1, UROD
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| Identification of a new mutation responsible for hepatoerythropoietic porphyria.
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| Romana M, et al.
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| Eur J Clin Invest 21 : 225-229. 1991
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| 7 | PCT1, UROD
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| Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
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| Garey JR, et al.
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| J Clin Invest 86 : 1416-1422. 1990
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| 8 | PCT1, UROD
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| Prevalence of the 281 (Gly-Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.
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| Verneuil H de, et al.
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| Hum Genet 78 : 101-102. 1988
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| 9 | PCT1, UROD
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| Heterogeneity of familial porphyria cutanea tarda.
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| Roberts AG, et al.
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| J Med Genet 25 : 669-676. 1988
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| 10 | PCT1, UROD
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| Uroporphyrinogen decarboxylase structural mutant (Gly281-Glu) in a case of porphyria.
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| Verneuil H de, et al.
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| Science 234 : 732-734. 1986
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