Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).
Kobayashi
I
I
Shiari
R
R
Yamada
M
M
Kawamura
N
N
Okano
M
M
Yara
A
A
Iguchi
A
A
Ishikawa
N
N
Ariga
T
T
Sakiyama
Y
Y
Ochs
H D
HD
Kobayashi
K
K
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D007564:Japan; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D013577:Syndrome; D013967:Thyroiditis, Autoimmune / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
D004268:DNA-Binding Proteins; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors