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Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Williamson, Kathleen A; Rainger, Joe; Floyd, James A B; Ansari, Morad; Meynert, Alison; Aldridge, Kishan V; Rainger, Jacqueline K; Anderson, Carl A; Moore, Anthony T; Hurles, Matthew E; Clarke, Angus; van Heyningen, Veronica; Verloes, Alain; Taylor, Martin S; Wilkie, Andrew O M; Fitzpatrick, David R.
Afiliação
  • Williamson KA; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Rainger J; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Floyd JA; Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.
  • Ansari M; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Meynert A; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Aldridge KV; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Rainger JK; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Anderson CA; Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.
  • Moore AT; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; University College London Institute of Ophthalmology, London EC1V 9EL, UK.
  • Hurles ME; Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.
  • Clarke A; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.
  • van Heyningen V; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Verloes A; Département de Génétique, Hôpital Robert-Debré, 75019 Paris, France.
  • Taylor MS; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Wilkie AO; Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.
  • Fitzpatrick DR; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address: david.fitzpatrick@igmm.ed.ac.uk.
Am J Hum Genet ; 94(2): 295-302, 2014 Feb 06.
Article em En | MEDLINE | ID: mdl-24462371
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Anormalidades do Olho / Códon sem Sentido / Proteínas Adaptadoras de Transdução de Sinal / Heterozigoto Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Anormalidades do Olho / Códon sem Sentido / Proteínas Adaptadoras de Transdução de Sinal / Heterozigoto Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Reino Unido