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Abnormal retinal development associated with FRMD7 mutations.
Thomas, Mervyn G; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Araki, Masasuke; Leroy, Bart P; McLean, Rebecca J; Sheth, Viral; Maconachie, Gail; Thomas, Shery; Moore, Anthony T; Gottlob, Irene.
Afiliação
  • Thomas MG; Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK mgt14@le.ac.uk ig15@le.ac.uk.
  • Crosier M; MRC-Wellcome Trust Human Developmental Biology Resource (Newcastle), Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK.
  • Lindsay S; MRC-Wellcome Trust Human Developmental Biology Resource (Newcastle), Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK.
  • Kumar A; Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK.
  • Araki M; Department of Biological Sciences, Developmental Neurobiology Laboratory, Nara Women's University, Nara 630-8506, Japan.
  • Leroy BP; Department of Ophthalmology and Centre for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
  • McLean RJ; Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK.
  • Sheth V; Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK.
  • Maconachie G; Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK.
  • Thomas S; Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK Department of Ophthalmology, Nottingham University Hospital NHS Trust, Nottingham, UK.
  • Moore AT; UCL Institute of Ophthalmology, London EC1V 9EL, UK.
  • Gottlob I; Ophthalmology Group, School of Medicine, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK mgt14@le.ac.uk ig15@le.ac.uk.
Hum Mol Genet ; 23(15): 4086-93, 2014 Aug 01.
Article em En | MEDLINE | ID: mdl-24688117
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nistagmo Congênito / Proteínas do Citoesqueleto / Proteínas de Membrana / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nistagmo Congênito / Proteínas do Citoesqueleto / Proteínas de Membrana / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Ano de publicação: 2014 Tipo de documento: Article