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Mutations in CDK5RAP2 cause Seckel syndrome.
Yigit, Gökhan; Brown, Karen E; Kayserili, Hülya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bögershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nürnberg, Gudrun; Nürnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd.
Afiliação
  • Yigit G; Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.
  • Brown KE; Chromosome Biology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital London, W12 0NN, UK.
  • Kayserili H; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey.
  • Pohl E; Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.
  • Caliebe A; Institute of Human Genetics, Christian-Albrechts-University of Kiel Kiel, Germany.
  • Zahnleiter D; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg Erlangen, Germany.
  • Rosser E; Department of Clinical Genetics, Great Ormond Street Hospital for Children London, WC1N 3EH, UK.
  • Bögershausen N; Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.
  • Uyguner ZO; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey.
  • Altunoglu U; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University Istanbul, Turkey.
  • Nürnberg G; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany ; Cologne Center for Genomics, University of Cologne Cologne, Germany.
  • Nürnberg P; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany ; Cologne Center for Genomics, University of Cologne Cologne, Germany.
  • Rauch A; Institute of Medical Genetics, University of Zurich Schwerzenbach-Zurich, Switzerland.
  • Li Y; Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.
  • Thiel CT; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg Erlangen, Germany.
  • Wollnik B; Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.
Mol Genet Genomic Med ; 3(5): 467-80, 2015 Sep.
Article em En | MEDLINE | ID: mdl-26436113
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha