Work

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

Year: 2012

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2012.08.006

Authors: Qing Zhou, Geun-Shik Lee, Jillian Brady, Shrimati Datta, Matilda Katan, Afzal Sheikh, Marta S. Martins, Tom D. Bunney, Brian H. Santich, Susan Moir, Douglas B. Kuhns, Debra A. Long Priel, Amanda Ombrello, Deborah Stone, Michael J. Ombrello, Javed Khan, Joshua D. Milner, Daniel L. Kastner, Ivona Aksentijevich

Institutions: National Human Genome Research Institute, Kangwon National University, National Institute of Allergy and Infectious Diseases, University College London, Science Applications International Corporation (United States), National Cancer Institute

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Cancer Research UK, National Institutes of Health

Award: G3661814986

OpenAlex ID: W2055177114

FWCI: 10.01

Cites: 22

Cited by: 371

Related to: 10