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Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Ceroni, Fabiola; Osborne, Daniel; Clokie, Samuel; Bax, Dorine A; Cassidy, Emma J; Dunn, Matt J; Harris, Christopher M; Self, Jay E; Ragge, Nicola K.
Afiliação
  • Ceroni F; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
  • Osborne D; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Clokie S; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Bax DA; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.
  • Cassidy EJ; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
  • Dunn MJ; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK.
  • Harris CM; School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK.
  • Self JE; Royal Eye Infirmary, Derriford Hospital, Plymouth, UK.
  • Ragge NK; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Eur J Hum Genet ; 31(3): 353-359, 2023 03.
Article em En | MEDLINE | ID: mdl-36207621
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Nistagmo Patológico Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Nistagmo Patológico Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article