@article{taillandier:hal-01214009,
TITLE = {Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing},
AUTHOR = {Taillandier, Agn{\`e}s and Domingues, Christelle and de Cazanove, Cl{\'e}mence and Porquet-Bordes, Val{\'e}rie and Monnot, Sophie and Kiffer-Moreira, Tina and Rothenbuhler, Agn{\`e}s and Guggenbuhl, Pascal and Cormier, Catherine and Baujat, Genevi{\`e}ve and Debiais, Fran{\c c}oise and Capri, Yline and Cohen-Solal, Martine and Parent, Philippe and Chiesa, Jean and Dieux, Anne and Petit, Florence and Roume, Jo{\"e}lle and Isnard, Monica and Cormier-Daire, Val{\'e}rie and Linglart, Agn{\`e}s and Mill{\'a}n, Jos{\'e} Luis and Salles, Jean-Pierre and Muti, Christine and Simon-Bouy, Brigitte and Mornet, Etienne},
URL = {https://univ-rennes.hal.science/hal-01214009},
JOURNAL = {Molecular Genetics and Metabolism},
PUBLISHER = {Elsevier},
VOLUME = {116},
NUMBER = {3},
PAGES = {215--220},
YEAR = {2015},
DOI = {10.1016/j.ymgme.2015.09.010},
KEYWORDS = {Hypophosphatasia ; NGS ; Differential diagnosis ; Osteogenesis imperfecta},
PDF = {https://univ-rennes.hal.science/hal-01214009/file/Molecular%20diagnosis%20of%20hypophosphatasia%20-%20clean%20version.pdf},
HAL_ID = {hal-01214009},
HAL_VERSION = {v1},
}