Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).
Heurtier L,Lamrini H,Chentout L,Deau M,Bouafia A,Rosain J,Plaza J,Parisot M,Dumont B,Turpin D,Merlin E,Moshous D,Aladjidi N,Neven B,Picard C,Cavazzana M,Fischer A,Durandy A,Stephan J,Kracker S
Source :
2017 Avr 20
Pmid / DOI:
28428270