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Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
Herbst, S M; Schirmer, S; Posovszky, C; Jochum, F; Rödl, T; Schroeder, J A; Barth, T F; Hehr, U; Melter, M; Vermehren, J.
  • Herbst SM; Center for and Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany. Electronic address: saskia.herbst@ukr.de.
  • Schirmer S; Center for and Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.
  • Posovszky C; University Medical Center Ulm, Department of Pediatrics and Adolescent Medicine, Ulm, Germany.
  • Jochum F; Department of Pediatrics and Adolescent Medicine, Evangelisches Waldkrankenhaus Spandau, Berlin, Germany.
  • Rödl T; Center for and Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.
  • Schroeder JA; Department of Pathology, University of Regensburg, Germany.
  • Barth TF; University of Ulm, Institute of Pathology, Ulm, Germany.
  • Hehr U; Center for and Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.
  • Melter M; KUNO - Children's University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.
  • Vermehren J; KUNO - Children's University Hospital Regensburg, Franz-Josef-Strauß-Allee 11, 93053 Regensburg, Germany.
Mol Cell Probes ; 29(5): 291-8, 2015 Oct.
Article en En | MEDLINE | ID: mdl-25771912
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Proteínas Portadoras / Colestasis / Análisis de Secuencia de ADN / Receptores de Superficie Celular / Transportadoras de Casetes de Unión a ATP / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Infant Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glicoproteínas de Membrana / Proteínas Portadoras / Colestasis / Análisis de Secuencia de ADN / Receptores de Superficie Celular / Transportadoras de Casetes de Unión a ATP / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Infant Idioma: En Año: 2015 Tipo del documento: Article