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Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.
Holt, R; Ugur Iseri, S A; Wyatt, A W; Bax, D A; Gold Diaz, D; Santos, C; Broadgate, S; Dunn, R; Bruty, J; Wallis, Y; McMullan, D; Ogilvie, C; Gerrelli, D; Zhang, Y; Ragge, Nicola.
Affiliation
  • Holt R; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
  • Ugur Iseri SA; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Wyatt AW; Department of Urologic Sciences, University of British Columbia, Vancouver, Canada.
  • Bax DA; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
  • Gold Diaz D; Developmental Biology & Cancer Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Santos C; Developmental Biology & Cancer Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Broadgate S; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
  • Dunn R; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Bruty J; Department of Genetics, Viapath, Guy's Hospital, London, UK.
  • Wallis Y; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK.
  • McMullan D; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK.
  • Ogilvie C; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK.
  • Gerrelli D; Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Zhang Y; Developmental Biology & Cancer Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Ragge N; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Hum Genet ; 136(1): 119-127, 2017 01.
Article in En | MEDLINE | ID: mdl-27844144
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycoproteins / Eye Abnormalities / Glaucoma, Open-Angle / Extracellular Matrix Proteins / Polymorphism, Single Nucleotide Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Infant / Male Language: En Journal: Hum Genet Year: 2017 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycoproteins / Eye Abnormalities / Glaucoma, Open-Angle / Extracellular Matrix Proteins / Polymorphism, Single Nucleotide Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Infant / Male Language: En Journal: Hum Genet Year: 2017 Type: Article Affiliation country: United kingdom