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Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.
El-Haig, Wael M; Jakobsson, Cecilia; Favez, Tatiana; Schorderet, Daniel F; Abouzeid, Hana.
Afiliação
  • El-Haig WM; Department of Ophthalmology, Zagazig University, Zagazig, Egypt.
  • Jakobsson C; IRO-Institute for Research in Ophthalmology, Sion, Switzerland Department of Ophthalmology, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.
  • Favez T; IRO-Institute for Research in Ophthalmology, Sion, Switzerland.
  • Schorderet DF; IRO-Institute for Research in Ophthalmology, Sion, Switzerland Department of Ophthalmology, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland EPFL-Faculté des Sciences du Vivant, Ecole polytechnique fédérale de Lausanne, Lausanne, Switzerland.
  • Abouzeid H; IRO-Institute for Research in Ophthalmology, Sion, Switzerland Department of Ophthalmology, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.
Br J Ophthalmol ; 98(12): 1718-23, 2014 Dec.
Article em En | MEDLINE | ID: mdl-25091951
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Retinose Pigmentar / Consanguinidade / Proteínas ADAM / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Revista: Br J Ophthalmol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Egito
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Retinose Pigmentar / Consanguinidade / Proteínas ADAM / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Revista: Br J Ophthalmol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Egito