Wiskott-Aldrich syndrome caused by a novel mutation in the WAS gene and presenting with a mild phenotype

Abina S.H.-B., Gaspar H.B., Blondeau J., Caccavelli L., Charrier S., Buckland K., Picard C., Six E., Himoudi N., Gilmour K., McNicol A.M., Hara H., Xu-Bayford J., Rivat C., Touzot F., Mavilio F., Lim A., Treluyer J.M., Héritier S., Lefrère F., Magalon J., Pengue-Koyi I., Honnet G., Blanche S., Sherman E.A., Male F., Berry C., Malani N., Bushman F.D., Fischer A., Thrasher A.J., Galy A., and Cavazzana M. 2015. Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. J. Am. Med. Assoc. 313(15): 1550–1563.

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