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Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Fazal, Sarah; Danzi, Matt C; van Kuilenburg, André B P; Reich, Selina; Traschütz, Andreas; Bender, Benjamin; Leen, René; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R; van Karnebeek, Clara D M; Ferreira, Carlos R; D'Sousa, Precilla; Network, Undiagnosed Diseases; Tekin, Mustafa; Züchner, Stephan; Synofzik, Matthis.
Afiliación
  • Fazal S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • van Kuilenburg ABP; Amsterdam UMC Location University of Amsterdam, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.
  • Reich S; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Traschütz A; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen 72076, Germany.
  • Bender B; German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.
  • Leen R; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen 72076, Germany.
  • Toro C; German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.
  • Usdin K; Department of Diagnostics and Interventional Neuroradiology, University of Tübingen, Tübingen 72076, Germany.
  • Hayward B; Amsterdam UMC Location University of Amsterdam, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.
  • Adams DR; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • van Karnebeek CDM; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Ferreira CR; Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • D'Sousa P; Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Network UD; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Tekin M; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Züchner S; Department of Pediatrics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, 1105 AZ Amsterdam, The Netherlands.
  • Synofzik M; United for Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.
Hum Mol Genet ; 32(1): 46-54, 2023 01 01.
Article en En | MEDLINE | ID: mdl-35913761
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glutaminasa Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glutaminasa Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido