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Journal Abstract Search

313 related items for PubMed ID: 12204007

  • 1. Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
    Tani SM, Wang Y, Kanegane H, Futatani T, Pinto J, Vilela MM, Miyawaki T.
    Hum Mutat; 2002 Sep; 20(3):235-6. PubMed ID: 12204007
    [Abstract] [Full Text] [Related]

  • 2. Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.
    Wang Y, Kanegane H, Sanal O, Ersoy F, Tezcan I, Futatani T, Tsukada S, Miyawaki T.
    Hum Mutat; 2001 Oct; 18(4):356. PubMed ID: 11668622
    [Abstract] [Full Text] [Related]

  • 3. Molecular analysis of Bruton's tyrosine kinase gene in Spain.
    Rodríguez MC, Granados EL, Cerdán AF, Casariego GF.
    Hum Mutat; 2001 Oct; 18(1):84. PubMed ID: 11438999
    [Abstract] [Full Text] [Related]

  • 4. Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
    Kanegane H, Futatani T, Wang Y, Nomura K, Shinozaki K, Matsukura H, Kubota T, Tsukada S, Miyawaki T.
    J Allergy Clin Immunol; 2001 Dec; 108(6):1012-20. PubMed ID: 11742281
    [Abstract] [Full Text] [Related]

  • 5. Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers.
    Hagemann TL, Assa'ad AH, Kwan SP.
    Am J Med Genet; 1995 Nov 06; 59(2):188-92. PubMed ID: 8588584
    [Abstract] [Full Text] [Related]

  • 6. Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
    Hagemann TL, Rosen FS, Kwan SP.
    Hum Mutat; 1995 Nov 06; 5(4):296-302. PubMed ID: 7627183
    [Abstract] [Full Text] [Related]

  • 7. Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
    Yip KL, Chan SY, Ip WK, Lau YL.
    Hum Mutat; 2000 Apr 06; 15(4):385. PubMed ID: 10737994
    [Abstract] [Full Text] [Related]

  • 8. X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene.
    Maekawa K, Yamada M, Okura Y, Sato Y, Yamada Y, Kawamura N, Ariga T.
    Blood Cells Mol Dis; 2010 Apr 15; 44(4):300-4. PubMed ID: 20122858
    [Abstract] [Full Text] [Related]

  • 9. Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
    Kobayashi S, Iwata T, Saito M, Iwasaki R, Matsumoto H, Naritaka S, Kono Y, Hayashi Y.
    Hum Genet; 1996 Apr 15; 97(4):424-30. PubMed ID: 8834236
    [Abstract] [Full Text] [Related]

  • 10. Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).
    Velickovic M, Prasad ML, Weston SA, Benson EM.
    Hum Mutat; 2004 Apr 15; 23(4):398-9. PubMed ID: 15024743
    [Abstract] [Full Text] [Related]

  • 11. Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia.
    Kristufek D, Aspalter RM, Eibl MM, Wolf HM.
    Mol Immunol; 2007 Mar 15; 44(7):1639-43. PubMed ID: 17045652
    [Abstract] [Full Text] [Related]

  • 12. Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia.
    Ramalho VD, Oliveira Júnior EB, Tani SM, Roxo Júnior P, Vilela MM.
    Braz J Med Biol Res; 2010 Sep 15; 43(9):910-3. PubMed ID: 20721470
    [Abstract] [Full Text] [Related]

  • 13. BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations.
    Tao L, Boyd M, Gonye G, Malone B, Schwaber J.
    Hum Mutat; 2000 Dec 15; 16(6):528-9. PubMed ID: 11102984
    [Abstract] [Full Text] [Related]

  • 14. Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
    Vorechovský I, Luo L, Hertz JM, Frøland SS, Klemola T, Fiorini M, Quinti I, Paganelli R, Ozsahin H, Hammarström L, Webster AD, Smith CI.
    Hum Mutat; 1997 Dec 15; 9(5):418-25. PubMed ID: 9143921
    [Abstract] [Full Text] [Related]

  • 15. Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA.
    Gaspar HB, Lester T, Levinsky RJ, Kinnon C.
    Clin Exp Immunol; 1998 Feb 15; 111(2):334-8. PubMed ID: 9486400
    [Abstract] [Full Text] [Related]

  • 16. Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
    Schuster V, Seidenspinner S, Kreth HW.
    Am J Med Genet; 1996 May 03; 63(1):318-22. PubMed ID: 8723128
    [Abstract] [Full Text] [Related]

  • 17. Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.
    Lopez-Herrera G, Berron-Ruiz L, Mogica-Martinez D, Espinosa-Rosales F, Santos-Argumedo L.
    Mol Immunol; 2008 Feb 03; 45(4):1094-8. PubMed ID: 17765309
    [Abstract] [Full Text] [Related]

  • 18. BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
    Fiorini M, Franceschini R, Soresina A, Schumacher RF, Ugazio AG, Rossi P, Plebani A, Notarangelo LD.
    Hum Mutat; 2004 Mar 03; 23(3):286. PubMed ID: 14974089
    [Abstract] [Full Text] [Related]

  • 19. Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.
    Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T.
    Blood; 1996 Jul 15; 88(2):561-73. PubMed ID: 8695804
    [Abstract] [Full Text] [Related]

  • 20. Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
    Okoh MP, Kainulainen L, Heiskanen K, Isa MN, Varming K, Ruuskanen O, Vihinen M.
    Hum Mutat; 2002 Dec 15; 20(6):480-1. PubMed ID: 12442285
    [Abstract] [Full Text] [Related]

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