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A novel mutation in the POLE2 gene causing combined immunodeficiency.
Frugoni, Francesco; Dobbs, Kerry; Felgentreff, Kerstin; Aldhekri, Hasan; Al Saud, Bandar K; Arnaout, Rand; Ali, Afshan Ashraf; Abhyankar, Avinash; Alroqi, Fayhan; Giliani, Silvia; Ojeda, Mayra Martinez; Tsitsikov, Erdyni; Pai, Sung-Yun; Casanova, Jean Laurent; Notarangelo, Luigi D; Manis, John P.
Afiliação
  • Frugoni F; Division of Immunology, Boston Children's Hospital, Boston, Mass.
  • Dobbs K; Division of Immunology, Boston Children's Hospital, Boston, Mass.
  • Felgentreff K; Division of Immunology, Boston Children's Hospital, Boston, Mass.
  • Aldhekri H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al Saud BK; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Arnaout R; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ali AA; Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Abhyankar A; New York Genome Center, New York, NY.
  • Alroqi F; Division of Immunology, Boston Children's Hospital, Boston, Mass.
  • Giliani S; Angelo Nocivelli Institute of Molecular Medicine, University of Brescia, Brescia, Italy.
  • Ojeda MM; Department of Genetics, Boston Children's Hospital, Boston, Mass.
  • Tsitsikov E; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass.
  • Pai SY; Division of Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, Mass.
  • Casanova JL; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, University Paris Descartes, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY;
  • Notarangelo LD; Division of Immunology, Boston Children's Hospital, Boston, Mass; Harvard Stem Cell Institute, Harvard University, Boston, Mass. Electronic address: luigi.notarangelo@childrens.harvard.edu.
  • Manis JP; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass; Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass; Department of Pathology, Harvard Medical School, Boston, Mass. Electronic address: manis@enders.tch.harvard
J Allergy Clin Immunol ; 137(2): 635-638.e1, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26365386
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa / DNA Polimerase II / Mutação Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa / DNA Polimerase II / Mutação Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article