A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
作者信息
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
出版信息
J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.
Abstract
摘要
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