Identification of three ADA2 deficiency families with novel CECR1 mutations

Por Sarrabay, G, Insalaco, A, Uettwiller, F, Tieulié, N, Quartier-dit-maire, P, Melki, J, Touitou, I
Publicado no Pediatr Rheumatol Online J (2015)

PReS-FINAL-2231: A series of 41 mutations of TNFRAF1A

Por Chastang, MC, Desjonqueres, M, Hentgen, V, Quartier Dit Maire, P, Grateau, G, Kone-Paut, I, Durieu, I, Ninet, J, Cochat, P
Publicado em 2013