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A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).
Johnston, Alicia M; Niemela, Julie; Rosenzweig, Sergio D; Fried, Ari J; Delmonte, Ottavia Maria; Fleisher, Thomas A; Kuehn, Hyesun.
Affiliation
  • Johnston AM; Department of Pediatrics, Baystate Medical Center Children's Hospital, Springfield, MA, USA. alicia.johnston@baystatehealth.org.
  • Niemela J; Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Rosenzweig SD; Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Fried AJ; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
  • Delmonte OM; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
  • Fleisher TA; Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  • Kuehn H; Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
J Clin Immunol ; 36(6): 541-3, 2016 08.
Article in En | MEDLINE | ID: mdl-27368913
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ectodermal Dysplasia / I-kappa B Kinase / Immunologic Deficiency Syndromes / Mutation Limits: Female / Humans / Male / Newborn Language: En Journal: J Clin Immunol Year: 2016 Document type: Article Affiliation country: United States Country of publication: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ectodermal Dysplasia / I-kappa B Kinase / Immunologic Deficiency Syndromes / Mutation Limits: Female / Humans / Male / Newborn Language: En Journal: J Clin Immunol Year: 2016 Document type: Article Affiliation country: United States Country of publication: Netherlands