title: A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency.
authors.affiliation: Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Seiryo-Machi, Sendai, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Uchiyama
authors.forename: Satoru
authors.initials: S
authors.lastname: Kumaki
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Fujiwara
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Nishida
authors.forename: Ikuko
authors.initials: I
authors.lastname: Hakozaki
authors.forename: Kaori
authors.initials: K
authors.lastname: Imai
authors.forename: Wei
authors.initials: W
authors.lastname: Du
authors.forename: Miyako
authors.initials: M
authors.lastname: Yoshinari
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.forename: Shigeru
authors.initials: S
authors.lastname: Tsuchiya
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D053616:Janus Kinase 3; D007564:Japan; D020125:Mutation, Missense / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics*
chemical_list: D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3