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

Qing Zhou(Sir Run Run Shaw Hospital), Ivona Aksentijevich(National Institutes of Health), Javed Khan(Kent State University), Douglas B. Kuhns(Leidos (United States)), Deborah L. Stone(National Institute of Arthritis and Musculoskeletal and Skin Diseases), Matilda Katan(Institute of Structural and Molecular Biology), Susan Moir(National Institutes of Health), Tom D. Bunney(Institute of Cancer Research), Joshua D. Milner(National Institute of Allergy and Infectious Diseases), Brian H. Santich(Memorial Sloan Kettering Cancer Center), Afzal Sheikh(Gazipur Agricultural University), Debra A. Long Priel(Science Applications International Corporation (United States)), Marta Martins(Instituto de Medicina Molecular João Lobo Antunes), Geun‐Shik Lee(Kangwon National University), Amanda K. Ombrello(National Human Genome Research Institute), Shrimati Datta(National Institute of Allergy and Infectious Diseases), Michael J. Ombrello(National Institute of Arthritis and Musculoskeletal and Skin Diseases), Daniel L. Kastner(National Institutes of Health), Jillian Brady(National Human Genome Research Institute)
The American Journal of Human Genetics
September 20, 2012
Cited by 380


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