Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

por Hagl, Beate, Spielberger, Benedikt D., Thoene, Silvia, Bonnal, Sophie, Mertes, Christian, Winter, Christof, Nijman, Isaac J., Verduin, Shira, Eberherr, Andreas C., Puel, Anne, Schindler, Detlev, Ruland, Jürgen, Meitinger, Thomas, Gagneur, Julien, Orange, Jordan S., van Gijn, Marielle E., Renner, Ellen D.
Publicado 2018