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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi, Eva; Vincent, Ajoy; Li, Zheng; Saihan, Zubin; Coffey, Alison J; Steele-Stallard, Heather B; Moore, Anthony T; Steel, Karen P; Luxon, Linda M; Héon, Elise; Bitner-Glindzicz, Maria; Webster, Andrew R.
Afiliação
  • Lenassi E; UCL Institute of Ophthalmology and Moorfields Eye Hospital, University College of London, London, UK.
  • Vincent A; Eye Hospital, University Medical Centre, Ljubljana, Slovenia.
  • Li Z; The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.
  • Saihan Z; UCL Institute of Ophthalmology and Moorfields Eye Hospital, University College of London, London, UK.
  • Coffey AJ; Ocular Genetics, Singapore Eye Research Institute, Singapore, Singapore.
  • Steele-Stallard HB; UCL Institute of Ophthalmology and Moorfields Eye Hospital, University College of London, London, UK.
  • Moore AT; Wellcome Trust Sanger Institute, Hinxton, UK.
  • Steel KP; UCL Institute of Child Health, London, UK.
  • Luxon LM; UCL Institute of Ophthalmology and Moorfields Eye Hospital, University College of London, London, UK.
  • Héon E; Wellcome Trust Sanger Institute, Hinxton, UK.
  • Bitner-Glindzicz M; UCL Ear Institute, London, UK.
  • Webster AR; National Hospital for Neurology and Neurosurgery, London, UK.
Eur J Hum Genet ; 23(10): 1318-27, 2015 Oct.
Article em En | MEDLINE | ID: mdl-25649381
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Proteínas da Matriz Extracelular / Síndromes de Usher / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Proteínas da Matriz Extracelular / Síndromes de Usher / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido