Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria

    February 2002 in “ PubMed
    U. Groß, Hervé Puy, Alexandra Kühnel … Doss Mo
    Studysummary This study identified a novel mutation in the coproporphyrinogen oxidase gene, contributing to hereditary coproporphyria in a family, with decreased enzyme activity observed in the affected members.
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