Point mutation in intron 11 of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
Shinomiya
N
N
Second Department of Pediatrics, School of Medicine, Toho University, Tokyo, Japan. noriaki@med.toho-u.ac.jp
Kanegane
H
H
Watanabe
A
A
Yamaguchi
Y
Y
Futatani
T
T
Miyawaki
T
T
D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D018076:DNA, Complementary / Q000032:analysis; D008040:Genetic Linkage; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics* / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014960:X Chromosome
D018076:DNA, Complementary; D016601:RNA-Binding Proteins; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase