Search Results - "Le Bozec, J."

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  1. 1

    Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France by Cuisset, L, Jeru, I, Dumont, B, Fabre, A, Cochet, E, Le Bozec, J, Delpech, M, Amselem, S, Touitou, I

    Published in Annals of the rheumatic diseases (01-03-2011)
    “…Cryopyrin-associated periodic syndromes (CAPS) consist of a continuum of autoinflammatory diseases caused by a defect in interleukin 1β regulation. Although…”
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    Journal Article
  2. 2

    First‐trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria by Rolland, M. O., Cuisset, L., Le Bozec, J., Guffon, N., VianeySaban, C.

    Published in Journal of inherited metabolic disease (01-12-2005)
    “…Summary Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity…”
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    Journal Article
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