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  • Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
    By:
    • Isidor, ,13Bertrand;
    • Lindenbaum, Pierre;
    • Pichon, Olivier;
    • Bézieau, Stéphane;
    • Dina, Christian;
    • Jacquemont, Sébastien;
    • Martin-Coignard, Dominique;
    • Thauvin-Robinet, Christel;
    • Le Merrer, Martine;
    • Mandel, Jean-Louis;
    • David, Albert;
    • Faivre, Laurence;
    • Cormier-Daire, Valérie;
    • Redon, Richard;
    • Le Caignec, Cédric
    Publication type:
    Article