Search Results - Durand, Genevi ve

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  1. 1
    Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

    Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping by Vuillaumier-Barrot, Sandrine, Barnier, Anne, Cuer, Maryvonne, Durand, Geneviève, Grandchamp, Bernard, Seta, Nathalie

    Published in Human mutation
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  2. 2
    Prevalence of tri- and tetraantennary glycans of human? 1-acid glycoprotein in release of macrophage inhibitor of interleukin-1 activity

    Prevalence of tri- and tetraantennary glycans of human? 1-acid glycoprotein in release of macrophage inhibitor of interleukin-1 activity by Bories, Phuong Nhi, Feger, Jeanne, Benbernou, Na ma, Rouzeau, Jean-Denis, Agneray, Jean, Durand, Genevi ve

    Published in Inflammation
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    Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

    Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene by Vuillaumier-Barrot, Sandrine, Bizec, Christiane Le, Durand, Geneviève, Grandchamp, Bernard, Seta, Nathalie

    Published in Human mutation
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