Three novel mutations in the coproporphyrinogen ox...[Hum Mutat. 1997] - PubMed Result

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1: Hum Mutat. 1997;9(1):78-80. Links

Three novel mutations in the coproporphyrinogen oxidase gene.

Lamoril J, Deybach JC, Puy H, Grandchamp B, Nordmann Y.

Laboratoire de Biochimie, Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, Colombes, France.

PMID: 8990017 [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH. Am J Hum Genet. 2001 May; 68(5):1130-8. Epub 2001 Apr 16.

[Am J Hum Genet. 2001]

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