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Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.
Hedberg-Oldfors, Carola; Mitra, Sanhita; Molinaro, Angela; Visuttijai, Kittichate; Fogelstrand, Linda; Oldfors, Anders; Sterky, Fredrik H; Darin, Niklas.
Afiliación
  • Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. carola.oldfors@gu.se.
  • Mitra S; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
  • Molinaro A; Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden.
  • Visuttijai K; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
  • Fogelstrand L; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
  • Oldfors A; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
  • Sterky FH; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Darin N; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
Eur J Hum Genet ; 31(8): 887-894, 2023 08.
Article en En | MEDLINE | ID: mdl-36935417
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Anemia Límite: Animals / Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Suecia
Texto completo
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Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Anemia Límite: Animals / Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Suecia