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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2012
विषय:
Report
ऑनलाइन पहुंच: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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