Your browser doesn't support javascript.
loading
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Schnappauf, Oskar; Zhou, Qing; Moura, Natalia Sampaio; Ombrello, Amanda K; Michael, Drew G; Deuitch, Natalie; Barron, Karyl; Stone, Deborah L; Hoffmann, Patrycja; Hershfield, Michael; Applegate, Carolyn; Bjornsson, Hans T; Beck, David B; Witmer, P Dane; Sobreira, Nara; Wohler, Elizabeth; Chiorini, John A; Center, The American Genome; Dalgard, Clifton L; Center, Nih Intramural Sequencing; Kastner, Daniel L; Aksentijevich, Ivona.
Affiliation
  • Schnappauf O; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA. oskar.schnappauf@nih.gov.
  • Zhou Q; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
  • Moura NS; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
  • Ombrello AK; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
  • Michael DG; Department of Laboratory Medicine, Center for Genetic Medicine Research, Children's National, Washington, DC, USA.
  • Deuitch N; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
  • Barron K; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Stone DL; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
  • Hoffmann P; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
  • Hershfield M; Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC, USA.
  • Applegate C; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Bjornsson HT; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Beck DB; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Witmer PD; Landspitali University Hospital, Reykjavik, Iceland.
  • Sobreira N; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
  • Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Chiorini JA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Center TAG; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Dalgard CL; Molecular Physiology and Therapeutics Branch, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA.
  • Center NIS; Collaborative Health Initiative Research Program, Henry Jackson Foundation, Bethesda, MD, USA.
  • Kastner DL; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
  • Aksentijevich I; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
J Clin Immunol ; 40(6): 917-926, 2020 08.
Article in En | MEDLINE | ID: mdl-32638197
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Adenosine Deaminase / Penetrance / Genetic Predisposition to Disease / Intercellular Signaling Peptides and Proteins / Inheritance Patterns / Genetic Association Studies Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Clin Immunol Year: 2020 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Adenosine Deaminase / Penetrance / Genetic Predisposition to Disease / Intercellular Signaling Peptides and Proteins / Inheritance Patterns / Genetic Association Studies Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Clin Immunol Year: 2020 Type: Article Affiliation country: United States