Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B cell dysfunction in patients with Smith- Magenis syndrome (SMS)

BACKGROUND: Heterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI) have been associated with the development of common variable immunodeficiency (CVID). Smith-Magenis syndrom...

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Библиографические подробности
Главные авторы: Chinen, Javier, Martinez-Gallo, Monica, Gu, Wenli, Cols, Montserrat, Cerutti, Andrea, Radigan, Lin, Zhang, Li, Potocki, Lorraine, Withers, Marjorie, Lupski, James R., Cunningham-Rundles, Charlotte
Формат: Artigo
Язык:Inglês
Опубликовано: 2011
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428026/
https://ncbi.nlm.nih.gov/pubmed/21514638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2011.02.046
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