disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

semanticscholar(2017)

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摘要
Daniel Petersheim, MD, Michel J. Massaad, PhD, Saetbyul Lee, PhD, Alessia Scarselli, MD, Caterina Cancrini, MD, Kunihiko Moriya, MD, PhD, Yoji Sasahara, MD, PhD, Arjan C. Lankester, MD, PhD, Morna Dorsey, MD, Daniela Di Giovanni, MD, Liliana Bezrodnik, MD, Hidenori Ohnishi, MD, PhD, Ryuta Nishikomori, MD, Kay Tanita, MD, Hirokazu Kanegane, MD, PhD, Tomohiro Morio, MD, Erwin W. Gelfand, MD, Ashish Jain, MD, Elizabeth Secord, MD, PhD, Capucine Picard, MD, PhD, JeanLaurent Casanova, MD, PhD, Michael H. Albert, MD, Troy R. Torgerson, MD, PhD, Raif S. Geha, MD
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