211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects
Titel:
211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects
Auteur:
Sole, Ana Esteve González-Granado, Luis Ignacio Boast, Brigette Niemela, Julie E. Stoddart, Jennifer L. Silva, Agustin G. Pias, Leticia Bolasell, Merce Marin, Ana V. Regueiro, Jose R Alsina, Laia Martine, Pierre Brown, Kate Apella, Ettore Quesada, Juan Francisco Sweeney, Colin L Malech, Harry Haigh, Cathryn L Kueh, HyeSun Rosenzweig, Sergio