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Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari, Aline; Sczakiel, Henrike L; Danyel, Magdalena; Kohlmaier, Benno; Mache, Christoph J; Stalke, Amelie; Pfister, Eva-Doreen; Thumfart, Julia; Henning, Stephan; Knisely, A S; Bufler, Philip.
Afiliación
  • Azabdaftari A; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.
  • Sczakiel HL; Berlin Institute of Health (BIH), Berlin, Germany.
  • Danyel M; Berlin Institute of Health (BIH), Berlin, Germany.
  • Kohlmaier B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.
  • Mache CJ; Max Planck Institute for Molecular Genetics, RG Development & Disease, Ihnestr. 63-73, Berlin, 14195, Germany.
  • Stalke A; Berlin Institute of Health (BIH), Berlin, Germany.
  • Pfister ED; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.
  • Thumfart J; Department of General Paediatrics, Medical University of Graz, Auenbruggerplatz 34/2, Graz, 8036, Austria.
  • Henning S; Department of General Paediatrics, Medical University of Graz, Auenbruggerplatz 34/2, Graz, 8036, Austria.
  • Knisely AS; Division of Paediatric Gastroenterology and Hepatology, Department of Paediatric Liver, Kidney and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Bufler P; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Liver Int ; 43(5): 1089-1095, 2023 05.
Article en En | MEDLINE | ID: mdl-36938759
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colestasis Límite: Humans Idioma: En Revista: Liver Int Asunto de la revista: GASTROENTEROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colestasis Límite: Humans Idioma: En Revista: Liver Int Asunto de la revista: GASTROENTEROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Alemania