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Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Zhou, Yan; Koelling, Nils; Fenwick, Aimée L; McGowan, Simon J; Calpena, Eduardo; Wall, Steven A; Smithson, Sarah F; Wilkie, Andrew O M; Twigg, Stephen R F.
Afiliación
  • Zhou Y; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Koelling N; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • McGowan SJ; Analysis, Visualisation and Informatics Group, MRC WIMM Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Smithson SF; Department of Clinical Genetics, St Michaels Hospital & School of Clinical Sciences, University of Bristol, Bristol, UK.
  • Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Twigg SRF; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Hum Mutat ; 39(10): 1360-1365, 2018 10.
Article en En | MEDLINE | ID: mdl-30040876
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Biosíntesis de Proteínas / Variación Genética / Acrocefalosindactilia / Proteínas Nucleares / Regiones no Traducidas 5' / Proteína 1 Relacionada con Twist Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Biosíntesis de Proteínas / Variación Genética / Acrocefalosindactilia / Proteínas Nucleares / Regiones no Traducidas 5' / Proteína 1 Relacionada con Twist Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article