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Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Häberle, Johannes; Moore, Marvin B; Haskins, Nantaporn; Rüfenacht, Véronique; Rokicki, Dariusz; Rubio-Gozalbo, Estela; Tuchman, Mendel; Longo, Nicola; Yandell, Mark; Andrews, Ashley; AhMew, Nicholas; Caldovic, Ljubica.
Afiliación
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
  • Moore MB; Department of Human Genetics, University of Utah Health Science Center, Salt Lake City, Utah, USA.
  • Haskins N; Center for Genetic Medicine Research, Children's National Hospital, Washington, District of Columbia, USA.
  • Rüfenacht V; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
  • Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Rubio-Gozalbo E; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Tuchman M; Center for Genetic Medicine Research, Children's National Hospital, Washington, District of Columbia, USA.
  • Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah Health Science Center, Salt Lake City, Utah, USA.
  • Yandell M; Eccles Institute of Human Genetics, University of Utah Health Science Center, Salt Lake City, Utah, USA.
  • Andrews A; 8USTAR Center for Genetic Discovery, University of Utah Health Science Center, Salt Lake City, Utah, USA.
  • AhMew N; Division of Medical Genetics, Pediatrics, University of Utah Health Science Center, Salt Lake City, Utah, USA.
  • Caldovic L; Center for Genetic Medicine Research, Children's National Hospital, Washington, District of Columbia, USA.
Hum Mutat ; 42(12): 1624-1636, 2021 12.
Article en En | MEDLINE | ID: mdl-34510628
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hiperamonemia / N-Acetiltransferasa de Aminoácidos / Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hiperamonemia / N-Acetiltransferasa de Aminoácidos / Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Suiza