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Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort
Affiliation:1. Department of Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, Barcelona, Spain;2. Department of Genetics, Sant Joan de Déu Hospitat, Barcelona, Spain;3. Unit of Paediatric Gastroenterology, Hepatology and Nutrition, Miguel Servet Hospital, Zaragoza, Spain;4. Department of Paediatric Gastroenterology, Nens Hospital of Barcelona, Barcelona, Spain;1. Department of Pathology, Shahid Beheshti Medical Centre, Qom University of Medical Sciences, Qom, Iran;2. Gastrointestinal and Liver Diseases Research Center, Iran University of Medical Sciences, Tehran, Iran;3. Gastroenterology and Hepatology Diseases Research Center, Qom University of Medical Sciences, Qom, Iran;4. Clinical Research Development, Qom University of Medical Sciences, Qom, Iran;1. Facultad de Ciencias de la Salud, Universidad Isabel I, Burgos, Spain;2. Department of Gastroenterology, Hospital Donostia/Instituto Biodonostia, San Sebastián, Spain;3. Department of Gastroenterology, Hospital Donostia/Instituto Biodonostia, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Universidad del País Vasco UPV/EHU, San Sebastián, Spain;4. Department of Gastroenterology, Hospital Clínico de Valladolid, Valladolid, Spain;5. Genomics Unit, Scientific Park, Madrid, Spain;1. Servicio de Gastroenterología, Hospital Universitario de Canarias, Instituto Universitario de Tecnologías Biomédicas (ITB), Departamento de Medicina Interna, Universidad de La Laguna, Tenerife, Spain;2. Servicio de Gastroenterología, ICMDiM, Hospital Clínic i Provincial, Barcelona, Spain;3. Servicio de Gastroenterología, Clínica Universitaria de Navarra, Pamplona, Spain;4. Research Unit, Hospital Universitario de Canarias, Spain;1. Division of Gastroenterology (Gastrocentro), University of Campinas (Unicamp), Campinas, Brazil;2. Department of Pathology, University of Campinas (Unicamp), Campinas, Brazil;3. Division of Clinical Gastroenterology and Hepatology, Department of Gastroenterology, University of Sao Paulo School of Medicine (FMUSP), Sao Paulo, Brazil;1. Hospital Universitario Monterrey, Mexico;2. Tecnologico de Monterrey: Instituto Tecnologico y de Estudios Superiores de Monterrey, Mexico;3. División de Gastroenterología y Hepatología, Hospital Universitario “Dr. José E. González”, Monterrey, NL, Mexico
Abstract:
Keywords:ATP8B1  ABCB11  ABCB4  BSEP  MDR3  FIC1  Progressive Familial Intrahepatic Cholestasis  ATP8B1  ABCB11  ABCB4  BSEP  MDR3  FIC1  Colestasis intrahepática progresiva familiar
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