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RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Cousin, Margot A; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; Schwab, Tanya L; Williams, Monique; Abraham, Roshini S; Barnett, Sarah; El-Youssef, Mounif; Graham, Rondell P; Gutierrez Sanchez, Luz Helena; Hasadsri, Linda; Hoffmann, Georg F; Hull, Nathan C; Kopajtich, Robert; Kovacs-Nagy, Reka; Li, Jia-Qi; Marx-Berger, Daniela; McLin, Valérie; McNiven, Mark A; Mounajjed, Taofic; Prokisch, Holger; Rymen, Daisy; Schulze, Ryan J; Staufner, Christian; Yang, Ye; Clark, Karl J; Lanpher, Brendan C; Klee, Eric W.
  • Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
  • Conboy E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
  • Wang JS; Department of Pediatrics, Jinshan Hospital, Fudan University, 201508 Shanghai, China; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 201102 Shanghai, China.
  • Lenz D; Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Schwab TL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
  • Williams M; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
  • Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Barnett S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • El-Youssef M; Department of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
  • Graham RP; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Gutierrez Sanchez LH; Department of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
  • Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Hull NC; Department of Radiology, Division of Pediatric Radiology, Mayo Clinic, Rochester, MN 55905, USA.
  • Kopajtich R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Kovacs-Nagy R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Li JQ; Department of Pediatrics, Jinshan Hospital, Fudan University, 201508 Shanghai, China.
  • Marx-Berger D; Pediatric Nephrology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland.
  • McLin V; Pediatric Gastroenterology Unit, University Hospitals Geneva, Rue Willy-Donzé 6, 1211 Geneva, Switzerland.
  • McNiven MA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
  • Mounajjed T; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Rymen D; Department of Metabolic Diseases, University Children's Hospital Zurich, Zurich, Switzerland.
  • Schulze RJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
  • Staufner C; Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Yang Y; Department of Pediatrics, Jinshan Hospital, Fudan University, 201508 Shanghai, China.
  • Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
  • Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: lanpher.brendan@mayo.edu.
  • Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, M
Am J Hum Genet ; 105(1): 108-121, 2019 07 03.
Article en En | MEDLINE | ID: mdl-31204009
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Autofagia / Enfermedades del Desarrollo Óseo / Fallo Hepático Agudo / Proteínas de Ciclo Celular / Fibroblastos / Mutación Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Autofagia / Enfermedades del Desarrollo Óseo / Fallo Hepático Agudo / Proteínas de Ciclo Celular / Fibroblastos / Mutación Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article