Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

Natural killer (NK) cells are circulating cytotoxic lymphocytes that exert potent and nonredundant antiviral activity and antitumoral activity in the mouse; however, their function in host defense in humans remains unclear. Here, we investigated 6 related patients with autosomal recessive growth ret...

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Hlavní autoři: Gineau, Laure, Cognet, Céline, Kara, Nihan, Lach, Francis Peter, Dunne, Jean, Veturi, Uma, Picard, Capucine, Trouillet, Céline, Eidenschenk, Céline, Aoufouchi, Said, Alcaïs, Alexandre, Smith, Owen, Geissmann, Frédéric, Feighery, Conleth, Abel, Laurent, Smogorzewska, Agata, Stillman, Bruce, Vivier, Eric, Casanova, Jean-Laurent, Jouanguy, Emmanuelle
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3287233/
https://ncbi.nlm.nih.gov/pubmed/22354167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI61014
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