title: Point mutation in intron 11 of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
authors.affiliation: Second Department of Pediatrics, School of Medicine, Toho University, Tokyo, Japan. noriaki@med.toho-u.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Shinomiya
authors.forename: H
authors.initials: H
authors.lastname: Kanegane
authors.forename: A
authors.initials: A
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Futatani
authors.forename: T
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: 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
chemical_list: D018076:DNA, Complementary; D016601:RNA-Binding Proteins; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase