A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome
| Autor: | Chou, Janet, Hanna-Wakim, Rima, Tirosh, Irit, Kane, Jennifer, Fraulino, David, Lee, Yu Nee, Ghanem, Soha, Mahfouz, Iman, Mégarbané, André, Lefranc, Gérard, Inati, Adlette, Dbaibo, Ghassan, Giliani, Silvia, Notarangelo, Luigi D., Geha, Raif S., Massaad, Michel J. |
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| Zdroj: | In The Journal of Allergy and Clinical Immunology December 2012 130(6):1414-1416 |
| Databáze: | ScienceDirect |
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