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Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.
Hirvonen, Elina A M; Peuhkuri, Saara; Norberg, Anna; Degerman, Sofie; Hannula-Jouppi, Katariina; Välimaa, Hannamari; Kilpivaara, Outi; Wartiovaara-Kautto, Ulla.
Afiliación
  • Hirvonen EAM; Genome-Scale Biology/Research Programs Unit, and Department of Medical and Clinical Genetics/Medicum, University of Helsinki, Helsinki, Finland.
  • Peuhkuri S; Genome-Scale Biology/Research Programs Unit, and Department of Medical and Clinical Genetics/Medicum, University of Helsinki, Helsinki, Finland.
  • Norberg A; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden.
  • Degerman S; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden.
  • Hannula-Jouppi K; Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  • Välimaa H; Folkhälsan Institute of Genetics, Helsinki, and Molecular Neurology/Research Programs Unit, University of Helsinki, Helsinki, Finland.
  • Kilpivaara O; Department of Virology, University of Helsinki and Department of Oral and Maxillofacial Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Wartiovaara-Kautto U; Genome-Scale Biology/Research Programs Unit, and Department of Medical and Clinical Genetics/Medicum, University of Helsinki, Helsinki, Finland. outi.kilpivaara@helsinki.fi.
Leukemia ; 33(1): 275-278, 2019 01.
Article en En | MEDLINE | ID: mdl-30185935
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Telómero / Proteínas de Ciclo Celular / Cromosomas Humanos X / Enfermedades Genéticas Ligadas al Cromosoma X / Homeostasis del Telómero / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Leukemia Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2019 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Telómero / Proteínas de Ciclo Celular / Cromosomas Humanos X / Enfermedades Genéticas Ligadas al Cromosoma X / Homeostasis del Telómero / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Leukemia Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2019 Tipo del documento: Article País de afiliación: Finlandia