Citations for
1JAK3, SCIDJ
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF.
Hum Mutat 18(4):255-63. 2001
2JAK3, SCIDJ
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD.
Hum Genet 106:73-79 2000
3JAK3, SCIDJ
Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain.
Cacalano NA, et al.
EMBO J 18(6):1549-1558. 1999
4JAK3, SCIDJ
Mutations of JAK-3 gene in patients with autosomal severe combined immune deficiency (SCID).
Macchi P, et al.
Nature 377 : 65-68. 1995
5JAK3, SCIDJ
Mutation of Jak3 in a patient with SCID : essential role of Jak3 in lymphoid development.
Russell SM, et al.
Science 270 : 797-800. 1995