Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia
Titel:
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia
Auteur:
Daddali, Ravindra Kettunen, Kaisa Turunen, Tanja Knox, Ainsley V.C. Laine, Pia Chowdhury, Iftekhar Vänttinen, Markku Mamia, Nanni Stiegler, Amy L. Boggon, Titus J. Kere, Juha Romberg, Neil Seppänen, Mikko R.J. Varjosalo, Markku Martelius, Timi Grönholm, Juha