A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)

被引：0
|
作者：
Erez Rechavi
Atar Lev
Eran Eyal
Ortal Barel
Nitzan Kol
Sarit Farage Barhom
Ben Pode-Shakked
Yair Anikster
Raz Somech
Amos J. Simon
机构：
[1] Tel Aviv University,Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, affiliated to the Sackler Faculty of Medicine
[2] Tel Aviv University,Edmond and Lily Safra Children’s Hospital, affiliated to the Sackler Faculty of Medicine
[3] Tel Aviv University,Cancer Research Center, affiliated to the Sackler Faculty of Medicine
[4] Tel Aviv University,Metabolic Disease Unit, affiliated to the Sackler Faculty of Medicine
[5] Tel Aviv University,Institute of Hematology, affiliated to the Sackler Faculty of Medicine
[6] Tel Aviv University,Sheba Medical Center, affiliated to the Sackler Faculty of Medicine
来源：
Journal of Clinical Immunology | 2016年 / 36卷
关键词：
Immunodeficiency; centromeric instability and facial anomalies syndrome; ICF; TREC; KREC; DNMT3B; hypogammaglobulinemia;
D O I：
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学科分类号：
摘要：
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页码：801 / 809
页数：8
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