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Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.
Vaclavik, Veronika; Tran, Hoai Viet; Schorderet Md PhD, Daniel F.
  • Vaclavik V; University of Lausanne, Jules Gonin Eye Hospital, Oculogenetic Unit, and Hospital Cantonal de Fribourg, Ophthalmology Department, HFR, Fribourg, Switzerland; University of Lausanne, Jules Gonin Eye Hospital, Oculogenetic unit, Lausanne, Switzerland.
  • Tran HV; University of Lausanne, Jules Gonin Eye Hospital, Oculogenetic Unit, and Hospital Cantonal de Fribourg, Ophthalmology Department, HFR, Fribourg, Switzerland.
  • Schorderet Md PhD DF; Institute for Research in Ophthalmology, Sion; Department of Ophthalmology, University of Lausanne and Faculty of Life Sciences, Ecole Polytechnique federal de Lausanne, Switzerland.
Ophthalmol Retina ; 4(10): 1023, 2020 10.
Article en En | MEDLINE | ID: mdl-33019987
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / ADN / Proteínas de la Matriz Extracelular / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / ADN / Proteínas de la Matriz Extracelular / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article