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A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Liu, Chunqiao; Widen, Sonya A; Williamson, Kathleen A; Ratnapriya, Rinki; Gerth-Kahlert, Christina; Rainger, Joe; Alur, Ramakrishna P; Strachan, Erin; Manjunath, Souparnika H; Balakrishnan, Archana; Floyd, James A; Li, Tiansen; Waskiewicz, Andrew; Brooks, Brian P; Lehmann, Ordan J; FitzPatrick, David R; Swaroop, Anand.
Afiliación
  • Liu C; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892, USA, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
  • Widen SA; Department of Biological Sciences, University of Alberta, Edmonton, AB, Canada T6G 2E9.
  • Williamson KA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Ratnapriya R; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892, USA.
  • Gerth-Kahlert C; Department of Ophthalmology, University Hospital Zurich, Frauenklinikstrasse 24, Zurich 8091, Switzerland.
  • Rainger J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Alur RP; Unit on Pediatric, Developmental, and Genetic Eye Disease, National Eye Institute, 10 Center Drive, Bethesda, MD 20892, USA.
  • Strachan E; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, AB, Canada T6G 2H7.
  • Manjunath SH; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892, USA.
  • Balakrishnan A; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892, USA.
  • Floyd JA; Welcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK and.
  • Li T; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892, USA.
  • Waskiewicz A; Department of Biological Sciences, University of Alberta, Edmonton, AB, Canada T6G 2E9, swaroopa@nei.nih.gov david.fitzpatrick@igmm.ed.ac.uk olehmann@ualberta.ca aw@ualberta.ca.
  • Brooks BP; Unit on Pediatric, Developmental, and Genetic Eye Disease, National Eye Institute, 10 Center Drive, Bethesda, MD 20892, USA.
  • Lehmann OJ; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, AB, Canada T6G 2H7, Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada T6G 2H7 swaroopa@nei.nih.gov david.fitzpatrick@igmm.ed.ac.uk olehmann@ualberta.ca aw@ualberta.ca.
  • FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, swaroopa@nei.nih.gov david.fitzpatrick@igmm.ed.ac.uk olehmann@ualberta.ca aw@ualberta.ca.
  • Swaroop A; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892, USA, swaroopa@nei.nih.gov david.fitzpatrick@igmm.ed.ac.uk olehmann@ualberta.ca aw@ualberta.ca.
Hum Mol Genet ; 25(7): 1382-91, 2016 Apr 01.
Article en En | MEDLINE | ID: mdl-26908622
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Receptores Frizzled / Vía de Señalización Wnt Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Receptores Frizzled / Vía de Señalización Wnt Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido