C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome
1994; Wiley; Volume: 3; Issue: 1 Linguagem: Inglês
10.1002/humu.1380030115
ISSN1098-1004
AutoresAnna Villa, Dario Strina, Paolo Macchi, M.C. Patrosso, Paolo Vezzoni, Pier‐Angelo Tovo, Silvia Giliani, Alberto G. Ugazio, Luigi D. Notarangelo,
Tópico(s)T-cell and B-cell Immunology
ResumoHuman MutationVolume 3, Issue 1 p. 73-75 Mutation in Brief C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome A. Villa, Corresponding Author A. Villa Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorD. Strina, D. Strina Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorP. Macchi, P. Macchi Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorM. C. Patrosso, M. C. Patrosso Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorP. Vezzoni, P. Vezzoni Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorP. A. Tovo, P. A. Tovo Clinica Pediatrica, Università di Torino, Torino, Italy; Fax: 392-266-3030Search for more papers by this authorS. Giliani, S. Giliani Clinica Pediatrica e Istituto di Chimica, Università di Brescia, Brescia, Italy; Fax: 392-266-3030Search for more papers by this authorA. G. Ugazio, A. G. Ugazio Clinica Pediatrica e Istituto di Chimica, Università di Brescia, Brescia, Italy; Fax: 392-266-3030Search for more papers by this authorL. D. Notarangelo, L. D. Notarangelo Clinica Pediatrica e Istituto di Chimica, Università di Brescia, Brescia, Italy; Fax: 392-266-3030Search for more papers by this author A. Villa, Corresponding Author A. Villa Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorD. Strina, D. Strina Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorP. Macchi, P. Macchi Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorM. C. Patrosso, M. C. Patrosso Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorP. Vezzoni, P. Vezzoni Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy; Fax: 392-266-3030Search for more papers by this authorP. A. Tovo, P. A. Tovo Clinica Pediatrica, Università di Torino, Torino, Italy; Fax: 392-266-3030Search for more papers by this authorS. Giliani, S. Giliani Clinica Pediatrica e Istituto di Chimica, Università di Brescia, Brescia, Italy; Fax: 392-266-3030Search for more papers by this authorA. G. Ugazio, A. G. Ugazio Clinica Pediatrica e Istituto di Chimica, Università di Brescia, Brescia, Italy; Fax: 392-266-3030Search for more papers by this authorL. D. Notarangelo, L. D. Notarangelo Clinica Pediatrica e Istituto di Chimica, Università di Brescia, Brescia, Italy; Fax: 392-266-3030Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380030115Citations: 7AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Allen CR, Armitage RJ, Conlev ME, Rosenblatt H, Jenkins NA, Copeland NO, Bedell MA, Edelhoff S, Disteche CM, Simo-neaux DK, Fanslow WC, Belmont J, Spriggs MK (1993) Science 259: 990–993. Armitage RJ, Fanslow WC, Strockbine L, Sato TA, Clifford KN, Macduff BM, Anderson DM, Gimpel SD, Davis-Smith T, Maliszewski CR, Clark EA, Smith CA, Grabstein KH, Cos-man D, Spriggs MK (1992) Nature (London) 357: 80–82. Aruffo A, Farrington M, Hollenbaugh D, Li XU, Milatovich A, Nonoyama S, Bajorath J, Grosmaire LS, Stenkamp R, Neu-bauer M, Roberts RL, Noelle RJ, Ledbetter JA, Francke U, Ochs HD (1993) Cell 72: 291–300. DiSanto JP, Bonnefoy JY, Gauchat JF, Fisher A, de Saint Basile G (1993) Nature (London) 361: 541–543. Fuleihan R, Narayanaswamy R, Loh R, Jabara H, Rosen F, Chatila T, Fu SM, Stamenkovic I, Geha RS (1993) Proc Natl Acad Sci USA 90: 2170–2173. Graf D, Korthaucr U, Mages HW, Senger G, Kroczek RA (1992) Eur J Immunol 22: 3191–3194. Hollenbaugh D, Grosmaire LS, Kullas CD, Chalupny NJ, Braesch-Andersen S, Noella RJ, Stamenkovic I, Ledbetter JA, Aniffo A (1992) EMBO J 11: 4313–4321. Korthauer U, Graf D, Mages HW, Brière F, Padayachee M, Mal-com S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA (1993) Nature (London) 361: 539–541. Notarangelo LD, Duse M, Ugazio AG (1992) Immunodeficiency Rev 3: 101–122. Spriggs MK, Armitage RJ, Stockbine L, Clifford KN, Macduff BM, Sato TA, Fanslow WC (1992) J Exp Med 176: 1543–1550. Citing Literature Volume3, Issue11994Pages 73-75 ReferencesRelatedInformation
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