Article
DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria.
Scandinavian journal of clinical and laboratory investigation - 1 Nov 2000
Petersen N E, Käehne M, Christiansen L, Brock A, Hother-Nielsen O, Rasmussen K
Abstract excerpt
The knowledge of at least 21 different mutations and several polymorphisms in the coproporphyrinogen oxidase (CPO) gene demonstrates that the molecular basis of hereditary coproporphyria is heterogeneous. We developed a DGGE-based assay for the analysis of exons 2 to 7, including 14-96 nucleotides of the flanking intronic sequences of the CPO gene. To render it suitable for the clinical diagnostic laboratory, we...
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