Janus kinase 3 missense mutation in a child with Jacobsen syndrome.
Lotz
Douglas R
DR
Knutsen
Alan P
AP
D002675:Child, Preschool; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000235:genetics* / Q000276:immunology; D053616:Janus Kinase 3 / Q000235:genetics*; D020125:Mutation, Missense; D016511:Severe Combined Immunodeficiency / Q000276:immunology
C507933:JAK3 protein, human; D053616:Janus Kinase 3