A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency.
Uchiyama
Toru
T
Department of Pediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, Seiryo-Machi, Sendai, Japan.
Kumaki
Satoru
S
Fujiwara
Mitsuhiro
M
Nishida
Yoshinobu
Y
Hakozaki
Ikuko
I
Imai
Kaori
K
Du
Wei
W
Yoshinari
Miyako
M
Sasahara
Yoji
Y
Tsuchiya
Shigeru
S
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*
D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3