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Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Pham, Duc-Hung; Kudira, Ramesh; Xu, Lingfen; Valencia, C Alexander; Ellis, Jillian L; Shi, Tiffany; Evason, Kimberley J; Osuji, Immaculeta; Matuschek, Nelson; Pfuhler, Liva; Mullen, Mary; Mohanty, Sujit K; Husami, Ammar; Bull, Laura N; Zhang, Kejian; Wali, Sami; Yin, Chunyue; Miethke, Alexander.
Affiliation
  • Pham DH; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Kudira R; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Xu L; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Pediatric Gastroenterology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Valencia CA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio; Department of Preclinical Education, Lake Erie College of Osteopathic Medicine, Erie, Pennsylvania.
  • Ellis JL; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Shi T; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Evason KJ; Department of Pathology and Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.
  • Osuji I; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Matuschek N; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Pfuhler L; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Mullen M; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Mohanty SK; Department of Pediatric and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Bull LN; Liver Center Laboratory, Department of Medicine and Institute for Human Genetics, University of California, San Francisco, San Francisco, California.
  • Zhang K; Mount Sinai Genomics, New York, New York.
  • Wali S; Pediatric Gastroenterology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Yin C; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address: chunyue.yin@cchmc.org.
  • Miethke A; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: alexander.miethke@cchmc.org.
Gastroenterology ; 161(1): 287-300.e16, 2021 07.
Article in En | MEDLINE | ID: mdl-33771553
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bile Ducts, Intrahepatic / Cholestasis, Intrahepatic / ATP-Binding Cassette Transporters / Zebrafish Proteins / Mutation Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Female / Humans / Infant Language: En Journal: Gastroenterology Year: 2021 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bile Ducts, Intrahepatic / Cholestasis, Intrahepatic / ATP-Binding Cassette Transporters / Zebrafish Proteins / Mutation Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Female / Humans / Infant Language: En Journal: Gastroenterology Year: 2021 Document type: Article