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MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
Gatz, Susanne A; Salles, Daniela; Jacobsen, Eva-Maria; Dörk, Thilo; Rausch, Tobias; Aydin, Sevtap; Surowy, Harald; Volcic, Meta; Vogel, Walther; Debatin, Klaus-Michael; Stütz, Adrian M; Schwarz, Klaus; Pannicke, Ulrich; Hess, Timo; Korbel, Jan O; Schulz, Ansgar S; Schumacher, Johannes; Wiesmüller, Lisa.
Affiliation
  • Gatz SA; Department of Pediatrics and Adolescent Medicine, Ulm University, Ulm, D-89075, Germany.
  • Salles D; Department of Obstetrics and Gynecology, Ulm University, Ulm, D-89075, Germany.
  • Jacobsen EM; Department of Pediatrics and Adolescent Medicine, Ulm University, Ulm, D-89075, Germany.
  • Dörk T; Gynecology Research Unit, Hannover Medical School, Hannover, D-30625, Germany.
  • Rausch T; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, D-69117, Germany.
  • Aydin S; Department of Obstetrics and Gynecology, Ulm University, Ulm, D-89075, Germany.
  • Surowy H; Department of Human Genetics, Ulm University, Ulm, D-89081, Germany.
  • Volcic M; Department of Obstetrics and Gynecology, Ulm University, Ulm, D-89075, Germany.
  • Vogel W; Department of Human Genetics, Ulm University, Ulm, D-89081, Germany.
  • Debatin KM; Department of Pediatrics and Adolescent Medicine, Ulm University, Ulm, D-89075, Germany.
  • Stütz AM; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, D-69117, Germany.
  • Schwarz K; Institute of Transfusion Medicine, Ulm University and Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg - Hessen, Ulm, D-89081, Germany.
  • Pannicke U; Institute of Transfusion Medicine, Ulm University and Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg - Hessen, Ulm, D-89081, Germany.
  • Hess T; Institute of Human Genetics, Biomedical Center, University of Bonn, Bonn, D-53127, Germany.
  • Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, D-69117, Germany.
  • Schulz AS; Department of Pediatrics and Adolescent Medicine, Ulm University, Ulm, D-89075, Germany.
  • Schumacher J; Institute of Human Genetics, Biomedical Center, University of Bonn, Bonn, D-53127, Germany.
  • Wiesmüller L; Department of Obstetrics and Gynecology, Ulm University, Ulm, D-89075, Germany.
Hum Mutat ; 37(3): 257-68, 2016 Mar.
Article in En | MEDLINE | ID: mdl-26615982

Full text: 1 Database: MEDLINE Main subject: Acetyltransferases / DNA Damage / Molecular Chaperones / Intracellular Signaling Peptides and Proteins / DNA Repair / Immunologic Deficiency Syndromes Limits: Humans Language: En Year: 2016 Type: Article

Full text: 1 Database: MEDLINE Main subject: Acetyltransferases / DNA Damage / Molecular Chaperones / Intracellular Signaling Peptides and Proteins / DNA Repair / Immunologic Deficiency Syndromes Limits: Humans Language: En Year: 2016 Type: Article