Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church J, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Mar?di L, Sz?cs G, Broides A, Nahum A, Levy J, Kettunen K, Daddali R, Sepp?nen M, V?nttinen M, Martelius T, Gr?nholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ESJ, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarstr?m Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N
Agammaglobulinemia; Germ-Line Mutation; Loss of Function Mutation; Proto-Oncogene Proteins; Trans-Activators
Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Middle Aged; Penetrance; Proto-Oncogene Protein Spi-1; Young Adult
Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church J, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Mar?di L, Sz?cs G, Broides A, Nahum A, Levy J, Kettunen K, Daddali R, Sepp?nen M, V?nttinen M, Martelius T, Gr?nholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ESJ, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarstr?m Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N. One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them. Blood. 2025 May 29; 145(22):2549-2560.
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.