Uroporphyrinogen decarboxylase
Definition:
References:
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[1]. John D Phillips, et al. Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J. 2003 Dec 1;22(23):6225-33. [Content Brief]
[2]. J D Phillips, et al. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood. 2001 Dec 1;98(12):3179-85. [Content Brief]
[3]. J To-Figueras, et al. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. Br J Dermatol. 2011 Sep;165(3):499-505. [Content Brief]
[4]. Cécile Ged, et al. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol. 2002 Jul;138(7):957-60. [Content Brief]
[5]. J J Brady, et al. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. J Invest Dermatol. 2000 Nov;115(5):868-74. [Content Brief]