A novel mutation of intron 22 in Janus kinase 3-deficient severe combined immunodeficiency.
Mjaanes
Christopher M
CM
Hendershot
Richard W
RW
Quinones
Ralph R
RR
Gelfand
Erwin W
EW
D005260:Female; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics*; D053616:Janus Kinase 3 / Q000235:genetics*; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D016511:Severe Combined Immunodeficiency / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology
C507933:JAK3 protein, human; D053616:Janus Kinase 3