Your browser doesn't support javascript.
loading
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Conde, Cecilia Domínguez; Petronczki, Özlem Yüce; Baris, Safa; Willmann, Katharina L; Girardi, Enrico; Salzer, Elisabeth; Weitzer, Stefan; Ardy, Rico Chandra; Krolo, Ana; Ijspeert, Hanna; Kiykim, Ayca; Karakoc-Aydiner, Elif; Förster-Waldl, Elisabeth; Kager, Leo; Pickl, Winfried F; Superti-Furga, Giulio; Martínez, Javier; Loizou, Joanna I; Ozen, Ahmet; van der Burg, Mirjam; Boztug, Kaan.
Afiliação
  • Conde CD; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.
  • Petronczki ÖY; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.
  • Baris S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.
  • Willmann KL; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.
  • Girardi E; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Salzer E; Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, Istanbul, Turkey.
  • Weitzer S; Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Marmara University, Istanbul, Turkey.
  • Ardy RC; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.
  • Krolo A; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.
  • Ijspeert H; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.
  • Kiykim A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.
  • Karakoc-Aydiner E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.
  • Förster-Waldl E; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Kager L; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Vienna, Austria.
  • Pickl WF; Center for Medical Biochemistry, Medical University of Vienna, Vienna, Austria.
  • Superti-Furga G; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.
  • Martínez J; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.
  • Loizou JI; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Ozen A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.
  • van der Burg M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and.
  • Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
J Clin Invest ; 129(10): 4194-4206, 2019 10 01.
Article em En | MEDLINE | ID: mdl-31449058
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / DNA Polimerase III / Síndromes de Imunodeficiência Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / DNA Polimerase III / Síndromes de Imunodeficiência Idioma: En Ano de publicação: 2019 Tipo de documento: Article