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Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Musalkova, Dita; Sticova, Eva; Reboun, Martin; Sokolova, Jitka; Krijt, Jakub; Honzikova, Jitka; Gurka, Jiri; Neroldova, Magdalena; Honzik, Tomas; Zeman, Jiri; Jirsa, Milan; Dvorakova, Lenka; Hrebicek, Martin.
Afiliación
  • Musalkova D; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic. dita.musalkova@lf1.cuni.cz.
  • Sticova E; Department of Clinical and Transplant Pathology, Institute for Clinical and Experimental Medicine (IKEM), Prague, Czech Republic.
  • Reboun M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.
  • Sokolova J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.
  • Krijt J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.
  • Honzikova J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.
  • Gurka J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.
  • Neroldova M; Institute of Histology and Embryology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Honzik T; Laboratory of Experimental Hepatology, Institute for Clinical and Experimental Medicine (IKEM), Prague, Czech Republic.
  • Zeman J; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Jirsa M; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Dvorakova L; Laboratory of Experimental Hepatology, Institute for Clinical and Experimental Medicine (IKEM), Prague, Czech Republic.
  • Hrebicek M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.
Virchows Arch ; 472(6): 1029-1039, 2018 Jun.
Article en En | MEDLINE | ID: mdl-29623395
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ornitina Carbamoiltransferasa / Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa / Cromosomas Humanos X / Inactivación del Cromosoma X / Glutamato-Amoníaco Ligasa / Hígado Límite: Female / Humans / Male Idioma: En Revista: Virchows Arch Asunto de la revista: BIOLOGIA MOLECULAR / PATOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: República Checa
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ornitina Carbamoiltransferasa / Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa / Cromosomas Humanos X / Inactivación del Cromosoma X / Glutamato-Amoníaco Ligasa / Hígado Límite: Female / Humans / Male Idioma: En Revista: Virchows Arch Asunto de la revista: BIOLOGIA MOLECULAR / PATOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: República Checa