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A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
PMID: 7897635 [PubMed - indexed for MEDLINE]
PMCID: PMC1050193
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Cited by 2 PubMed Central articles
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Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults.
Usui K, Sasahara Y, Tazawa R, Hagiwara K, Tsukada S, Miyawaki T, Tsuchiya S, Nukiwa T.
Respir Res. 2001; 2(3):188-92. Epub 2001 Apr 12.
[Respir Res. 2001]
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BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Vihinen M, Iwata T, Kinnon C, Kwan SP, Ochs HD, Vorechovský I, Smith CI.
Nucleic Acids Res. 1996 Jan 1; 24(1):160-5.
[Nucleic Acids Res. 1996]