A novel mutation in the linker domain of the signal transducer and activator of transcription 3 gene, p.Lys531Glu, in hyper-IgE syndrome.
Kim
Hee-Jin
HJ
Kim
Ji-Hyun
JH
Shin
Young Kee
YK
Lee
Sang-Il
SI
Ahn
Kang-Mo
KM
D000595:Amino Acid Sequence; D002675:Child, Preschool; D006801:Humans; D020381:Interleukin-17 / Q000096:biosynthesis; D007589:Job Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000737:chemistry / Q000235:genetics*
D020381:Interleukin-17; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human