首页> The Journal of clinical investigation> Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.

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第一作者： Cecilia Domínguez,Conde

第一单位： Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.;CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.

作者： Cecilia Domínguez,Conde ^[1] ; Özlem Yüce,Petronczki ^[2] ; Safa,Baris ^[3] ; Katharina L,Willmann ^[1] ; Enrico,Girardi ^[4] ; Elisabeth,Salzer ^[5] ; Stefan,Weitzer ^[6] ; Rico Chandra,Ardy ^[2] ; Ana,Krolo ^[2] ; Hanna,Ijspeert ^[7] ; Ayca,Kiykim ^[3] ; Elif,Karakoc-Aydiner ^[3] ; Elisabeth,Förster-Waldl ^[8] ; Leo,Kager ^[9] ; Winfried F,Pickl ^[10] ; Giulio,Superti-Furga ^[11] ; Javier,Martínez ^[6] ; Joanna I,Loizou ^[4] ; Ahmet,Ozen ^[3] ; Mirjam,van der Burg ^[7] ; Kaan,Boztug ^[5]

作者单位： Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.;CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and. ^[1] Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.;CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.;St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria. ^[2] Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, Istanbul, Turkey.;Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Marmara University, Istanbul, Turkey. ^[3] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and. ^[4] Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.;CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.;St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.;St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Vienna, Austria. ^[5] Center for Medical Biochemistry, Medical University of Vienna, Vienna, Austria. ^[6] Department of Pediatrics, Laboratory for Immunology, Leiden University Medical Centre, Leiden, Netherlands. ^[7] Department of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine. ^[8] St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Vienna, Austria. ^[9] Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, and. ^[10] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.;Center for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria. ^[11]

关键词 Adaptive immunity DNA repair Genetic diseases Genetics Immunology