title: A novel mutation of intron 22 in Janus kinase 3-deficient severe combined immunodeficiency.
authors: Christopher M
authors: CM
authors: Mjaanes
authors: Richard W
authors: RW
authors: Hendershot
authors: Ralph R
authors: RR
authors: Quinones
authors: Erwin W
authors: EW
authors: Gelfand
mesh_terms: 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
chemical_list: C507933:JAK3 protein, human; D053616:Janus Kinase 3