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BTKbase: XLA-mutation registry.
Vihinen M, Brooimans RA, Kwan SP, Lehväslaiho H, Litman GW, Ochs HD, Resnick I, Schwaber JH, Vorĕchovsky I, Smith CI. Vihinen M, et al. Among authors: smith ci. Immunol Today. 1996 Nov;17(11):502-6. doi: 10.1016/0167-5699(96)30058-3. Immunol Today. 1996. PMID: 8961625 No abstract available.
Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.
Vihinen M, Nore BF, Mattsson PT, Bäckesjö CM, Nars M, Koutaniemi S, Watanabe C, Lester T, Jones A, Ochs HD, Smith CI. Vihinen M, et al. Among authors: smith ci. FEBS Lett. 1997 Aug 18;413(2):205-10. doi: 10.1016/s0014-5793(97)00912-5. FEBS Lett. 1997. PMID: 9280283 Free article.
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Sassi A, et al. Among authors: smith ci. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698316 Free PMC article. Clinical Trial.
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Vihinen M, Iwata T, Kinnon C, Kwan SP, Ochs HD, Vorechovský I, Smith CI. Vihinen M, et al. Among authors: smith ci. Nucleic Acids Res. 1996 Jan 1;24(1):160-5. doi: 10.1093/nar/24.1.160. Nucleic Acids Res. 1996. PMID: 8594569 Free PMC article.
626 results