Nature Medicine · 2000 · 310 citations · 12 references
Life SciencesGeneticsImmunologyHuman GeneticsMedical GeneticsPediatric ImmunologyCombined ImmunodeficiencyGenetic DisordersImmunodeficiency DisordersPrimary ImmunodeficiencyPrimary Immunodeficiency GeneticsSecondary ImmunodeficiencyCombined T-cell ImmunodeficiencyCongenital Immunodeficiency DisordersHematopathology Of Congenital ImmunodeficiencyMolecular Genetics Of Immunodeficiency
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Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
Paolo Macchi, Anna Villa, Silvia Giliani et al. · Nature · 1995 · 885 citations
Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development
Sarah M. Russell, Nahid Tayebi, Hiroshi Nakajima et al. · Science · 1995 · 814 citations · Full text
Life Sciences, Genetics, Immunology +17
Human Severe Combined Immunodeficiency Due to a Defect in ZAP-70, a T Cell Tyrosine Kinase
Melissa E. Elder, Dong Lin, Jared L. Clever et al. · Science · 1994 · 519 citations
ZAP-70 Deficiency in an Autosomal Recessive form of Severe Combined Immunodeficiency
Andrew C. Chan, Theresa A. Kadlecek, Melissa E. Elder et al. · Science · 1994 · 492 citations