Literature DB >> 7897635

A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.

Y Ohashi, S Tsuchiya, T Konno.   

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Year:  1995        PMID： 7897635      PMCID： PMC1050193          DOI： 10.1136/jmg.32.1.77

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.

Authors:  D C Saffran; O Parolini; M E Fitch-Hilgenberg; D J Rawlings; D E Afar; O N Witte; M E Conley
Journal:  N Engl J Med       Date:  1994-05-26       Impact factor: 91.245

2.  Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.

Authors:  M de Weers; R G Mensink; M E Kraakman; R K Schuurman; R W Hendriks
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

3.  Epstein-Barr virus-induced precursor B cell lines from patients with congenital agammaglobulinemia.

Authors:  S Tsuchiya; T Sato; S Nakae; S Katamine; T Konno; K Tada
Journal:  Tohoku J Exp Med       Date:  1983-06       Impact factor: 1.848

4.  Epstein-Barr virus-induced lymphoblastoid cell lines from patients with primary immunodeficiency diseases.

Authors:  S Tsuchiya; T Konno; K Tada; Y Ono
Journal:  Scand J Immunol       Date:  1980       Impact factor: 3.487

5.  Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

Authors:  L A Bradley; A K Sweatman; R C Lovering; A M Jones; G Morgan; R J Levinsky; C Kinnon
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

6.  Secondary structure of Src homology 2 domain of c-Abl by heteronuclear NMR spectroscopy in solution.

Authors:  M Overduin; B Mayer; C B Rios; D Baltimore; D Cowburn
Journal:  Proc Natl Acad Sci U S A       Date:  1992-12-15       Impact factor: 11.205

7.  The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

Authors:  D Vetrie; I Vorechovský; P Sideras; J Holland; A Davies; F Flinter; L Hammarström; C Kinnon; R Levinsky; M Bobrow
Journal:  Nature       Date:  1993-01-21       Impact factor: 49.962

8.  Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.

Authors:  S Tsukada; D C Saffran; D J Rawlings; O Parolini; R C Allen; I Klisak; R S Sparkes; H Kubagawa; T Mohandas; S Quan
Journal:  Cell       Date:  1993-01-29       Impact factor: 41.582
  8 in total
  2 in total

1.  BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

Authors:  M Vihinen; T Iwata; C Kinnon; S P Kwan; H D Ochs; I Vorechovský; C I Smith
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

2.  Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults.

Authors:  K Usui; Y Sasahara; R Tazawa; K Hagiwara; S Tsukada; T Miyawaki; S Tsuchiya; T Nukiwa
Journal:  Respir Res       Date:  2001-04-12
  2 in total

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