A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

Qing Zhou(National Human Genome Research Institute), Geun‐Shik Lee(Kangwon National University), Jillian Brady(National Human Genome Research Institute), Shrimati Datta(National Institute of Allergy and Infectious Diseases), Matilda Katan(Institute of Structural and Molecular Biology), Afzal Sheikh(National Human Genome Research Institute), Marta Martins(Institute of Structural and Molecular Biology), Tom D. Bunney(Institute of Structural and Molecular Biology), Brian H. Santich(National Institute of Allergy and Infectious Diseases), Susan Moir(National Institute of Allergy and Infectious Diseases), Douglas B. Kuhns(Science Applications International Corporation (United States)), Debra A. Long Priel(Science Applications International Corporation (United States)), Amanda K. Ombrello(National Human Genome Research Institute), Deborah L. Stone(National Human Genome Research Institute), Michael J. Ombrello(National Human Genome Research Institute), Javed Khan(National Cancer Institute), Joshua D. Milner(National Institute of Allergy and Infectious Diseases), Daniel L. Kastner(National Human Genome Research Institute), Ivona Aksentijevich(National Human Genome Research Institute)
The American Journal of Human Genetics
September 20, 2012
Cited by 378Open Access
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