Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

@article{Lamoril2001CharacterizationOM,
  title={Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.},
  author={J{\'e}rĵme Lamoril and H. S. Puy and Sharon D. Whatley and C{\'e}sar Gavil{\'a}n Mart{\'i}n and Jackie R. Woolf and Vasco Pereira da Silva and J. Ch. Deybach and George H. Elder},
  journal={American journal of human genetics},
  year={2001},
  volume={68 5},
  pages={1130-8}
}
Hereditary coproporphyria (HCP) is the least common of the autosomal dominant acute hepatic porphyrias. It results from mutations in the CPO gene that encodes the mitochondrial enzyme, coproporphyrinogen oxidase. A few patients have also been reported who are homoallellic or heteroallelic for CPO mutations and are clinically distinct from those with HCP. In such patients the presence of a specific mutation (K404E) on one or both alleles produces a neonatal hemolytic anemia that is known as… CONTINUE READING

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Hereditary coproporphyria ( HCP ) is the least common of the autosomal dominant acute hepatic porphyrias .
Hereditary coproporphyria ( HCP ) is the least common of the autosomal dominant acute hepatic porphyrias .
HCP is more heterogeneous than other acute porphyrias , with all but one mutation being restricted to a single family , with a predominance of missense mutations ( 10 missense , 2 nonsense , 1 frameshift , and 1 splice site ) .
HCP is more heterogeneous than other acute porphyrias , with all but one mutation being restricted to a single family , with a predominance of missense mutations ( 10 missense , 2 nonsense , 1 frameshift , and 1 splice site ) .
Hereditary coproporphyria ( HCP ) is the least common of the autosomal dominant acute hepatic porphyrias .
Hereditary coproporphyria ( HCP ) is the least common of the autosomal dominant acute hepatic porphyrias .
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype - phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria .
Hereditary coproporphyria ( HCP ) is the least common of the autosomal dominant acute hepatic porphyrias .
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