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EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Thomas, Huw B; Wood, Katherine A; Buczek, Weronika A; Gordon, Christopher T; Pingault, Véronique; Attié-Bitach, Tania; Hentges, Kathryn E; Varghese, Vinod C; Amiel, Jeanne; Newman, William G; O'Keefe, Raymond T.
Afiliación
  • Thomas HB; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
  • Wood KA; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
  • Buczek WA; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
  • Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Pingault V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Attié-Bitach T; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Hentges KE; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Varghese VC; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Amiel J; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Newman WG; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • O'Keefe RT; INSERM UMR 1163, Institut Imagine, Paris, France.
Hum Mutat ; 41(8): 1372-1382, 2020 08.
Article en En | MEDLINE | ID: mdl-32333448
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Elongación de Péptidos / Empalme del ARN / Ribonucleoproteína Nuclear Pequeña U5 / Disostosis Mandibulofacial / Discapacidad Intelectual / Microcefalia Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Elongación de Péptidos / Empalme del ARN / Ribonucleoproteína Nuclear Pequeña U5 / Disostosis Mandibulofacial / Discapacidad Intelectual / Microcefalia Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido