Creatine transporter deficiency: Novel mutations and functional studies

por Ardon, O., Procter, M., Mao, R., Longo, N., Landau, Y.E., Shilon-Hadass, A., Gabis, L.V., Hoffmann, C., Tzadok, M., Heimer, G., Sada, S., Ben-Zeev, B., Anikster, Y.
Publicado 2016

OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)

por Levy-Lahad, E, Elkan-Navon, P, Segel, R, Pierce, SB, Walsh, T, Barash, J, Padeh, S, Zlotogorski, A, Berkun, YY, Press, JJ, Mukamel, M, Hashkes, PJ, Harel, LL, Tekin, M, Yalcinkaya, F, Kasapcopur, O, Emirogullari, EF, Lee, MK, Klevit, RE, Renbaum, PF, Weinberg-Shukron, A, Zeligson, S, Marek-Yagel, D, Shohat, M, Singer, A, Pras, E, Rubinow, AA, Anikster, Y, King, M-C
Publicado 2013