Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., Antony-Debre, I., Beaupain, B., Aladjidi, N., Barlogis, V., Bauduer, F., Bensaid, P., Boespflug-Tanguy, O., Berger, C., Bertrand, Y., Carausu, L., Fieschi, C., Galambrun, C., Schmidt, A., Journel, H., Mazingue, F., Nelken, B., Quah, T. C., Oksenhendler, E., Ouachee, M., Pasquet, M., Saada, V., Suarez, F., Pierron, G., Vainchenker, W., Plo, I., Donadieu, J.
American Society of Hematology (ASH)
Published 2018