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

Whole-exome sequencing was performed in a family affected by dominantly inherited inflammatory disease characterized by recurrent blistering skin lesions, bronchiolitis, arthralgia, ocular inflammation, enterocolitis, absence of autoantibodies, and mild immunodeficiency. Exome data from three sample...

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Bibliografiske detaljer
Main Authors: Zhou, Qing, Lee, Geun-Shik, Brady, Jillian, Datta, Shrimati, Katan, Matilda, Sheikh, Afzal, Martins, Marta S., Bunney, Tom D., Santich, Brian H., Moir, Susan, Kuhns, Douglas B., Priel, Debra A. Long, Ombrello, Amanda, Stone, Deborah, Ombrello, Michael J., Khan, Javed, Milner, Joshua D., Kastner, Daniel L., Aksentijevich, Ivona
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2012
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484656/
https://ncbi.nlm.nih.gov/pubmed/23000145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.006
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