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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neroldová, Magdaléna; Ciara, Elzbieta; Slatinská, Janka; Franková, Sona; Lisková, Petra; Kotalová, Radana; Globinovská, Janka; Safaríková, Markéta; Pfeiferová, Lucie; Zunová, Hana; Mrázová, Lenka; Stránecký, Viktor; Vrbacká, Alena; Fabián, Ondrej; Sticová, Eva; Skanderová, Daniela; Sperl, Jan; Kalousová, Marta; Zima, Tomás; Macek, Milan; Pawlowska, Joanna; Knisely, A S; Kmoch, Stanislav; Jirsa, Milan.
Afiliación
  • Neroldová M; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Ciara E; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Slatinská J; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Franková S; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Lisková P; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Kotalová R; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Globinovská J; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Safaríková M; Department of Pediatrics, Second Faculty of Medicine, Charles University and Faculty Hospital Motol, Prague, Czech Republic.
  • Pfeiferová L; Department of Pediatrics, Hospital Poprad, Poprad, Slovak Republic.
  • Zunová H; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Mrázová L; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Stránecký V; Department of Informatics and Chemistry, University of Chemistry and Technology in Prague, Prague, Czech Republic.
  • Vrbacká A; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
  • Fabián O; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Sticová E; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Skanderová D; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Sperl J; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Kalousová M; Department of Pathology and Molecular Medicine, 3rd Faculty of Medicine, Charles University and Thomayer Hospital, Prague, Czech Republic.
  • Zima T; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Macek M; Department of Pathology, Faculty of Medicine and Dentistry, Palacky University Olomouc and Faculty Hospital, Olomouc, Czech Republic.
  • Pawlowska J; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Knisely AS; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Kmoch S; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Jirsa M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
PLoS One ; 18(7): e0288907, 2023.
Article en En | MEDLINE | ID: mdl-37471416
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colestasis / Colestasis Intrahepática Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colestasis / Colestasis Intrahepática Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos