CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY

Autor: MACCHI, P, VILLA, A, STRINA, D, SACCO, MG, MORALI, F, BRUGNONI, D, GILIANI, S, MANTUANO, E, FASTH, A, ANDERSSON, B, ZEGERS, BJM, CAVAGNI, G, REZNICK, I, LEVY, J, ZANBAR, I, PORAT, Y, AIRO, P, PLEBANI, A, VEZZONI, P, NOTARANGELO, LD

Publikováno v: American journal of human genetics 56 (1995): 898–906.
info:cnr-pdr/source/autori:MACCHI, P; VILLA, A; STRINA, D; SACCO, MG; MORALI, F; BRUGNONI, D; GILIANI, S; MANTUANO, E; FASTH, A; ANDERSSON, B; ZEGERS, BJM; CAVAGNI, G; REZNICK, I; LEVY, J; ZANBAR, I; PORAT, Y; AIRO, P; PLEBANI, A; VEZZONI, P; NOTARANGELO, LD/titolo:CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY/doi:/rivista:American journal of human genetics/anno:1995/pagina_da:898/pagina_a:906/intervallo_pagine:898–906/volume:56

X-linked immunodeficiency with hyper-IgM (HIGMX-1) is a rare disorder caused by defective expression of the CD40 ligand (CD40L) by activated T lymphocytes, resulting in inefficient T-B cell cooperation and failure of B cells to undergo immunoglobulin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::c5edec8c13b21299b4ff8e935d79e331
https://publications.cnr.it/doc/281403

Characterization of nine novel mutations in the CD40 ligand gene in patients with x-linked hyper IgM syndrome of various ancestry

Autor: Macchi, P., Villa, A., Strina, D., Sacco, M. G., Morali, F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A., Anders Fasth, Zegers, B. J. M., Cavagni, G., Reznick, I., Levy, J., Zan-Bar, I., Porat, Y., Airo, P., Plebani, A., Vezzoni, P., Notarangelo, L. D.

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::159dfaa5711362c453cd4e7ee99edfe1
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028901954&partnerID=MN8TOARS

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