A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy
2000; Wiley; Volume: 16; Issue: 1 Linguagem: Inglês
10.1002/1098-1004(200007)16
ISSN1098-1004
AutoresEeva-Marja Sankila, Tarja Joensuu, Riikka H. H�m�l�inen, Nina Raitanen, Olavi Valle, Jaakko Ignatius, Bru Cormand,
Tópico(s)Drug-Induced Ocular Toxicity
ResumoHuman MutationVolume 16, Issue 1 p. 94-94 Mutation and Polymorphism Report A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy † Eeva-Marja Sankila, Eeva-Marja Sankila Department of Medical Genetics, University of Helsinki, Helsinki Department of Ophtalmology, Helsinki University Hospital, HelsinkiSearch for more papers by this authorTarja H. Joensuu, Tarja H. Joensuu Department of Medical Genetics, University of Helsinki, Helsinki Department of Ophtalmology, Helsinki University Hospital, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this authorRiikka H. Hämäläinen, Riikka H. Hämäläinen Department of Medical Genetics, University of Helsinki, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this authorNina Raitanen, Nina Raitanen Department of Medical Genetics, University of Helsinki, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this authorOlavi Valle, Olavi Valle Säästöpankinranta 4 C, HelsinkiSearch for more papers by this authorJaakko Ignatius, Jaakko Ignatius Department of Medical Genetics, University of Helsinki, Helsinki Department of Clinical Neurophysiology, Jorvi Hospital, Espoo, FinlandSearch for more papers by this authorBru Cormand, Bru Cormand Department of Medical Genetics, University of Helsinki, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this author Eeva-Marja Sankila, Eeva-Marja Sankila Department of Medical Genetics, University of Helsinki, Helsinki Department of Ophtalmology, Helsinki University Hospital, HelsinkiSearch for more papers by this authorTarja H. Joensuu, Tarja H. Joensuu Department of Medical Genetics, University of Helsinki, Helsinki Department of Ophtalmology, Helsinki University Hospital, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this authorRiikka H. Hämäläinen, Riikka H. Hämäläinen Department of Medical Genetics, University of Helsinki, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this authorNina Raitanen, Nina Raitanen Department of Medical Genetics, University of Helsinki, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this authorOlavi Valle, Olavi Valle Säästöpankinranta 4 C, HelsinkiSearch for more papers by this authorJaakko Ignatius, Jaakko Ignatius Department of Medical Genetics, University of Helsinki, Helsinki Department of Clinical Neurophysiology, Jorvi Hospital, Espoo, FinlandSearch for more papers by this authorBru Cormand, Bru Cormand Department of Medical Genetics, University of Helsinki, Helsinki Department of Molecular Genetics, The Folkhälsan Institute of Genetics, HelsinkiSearch for more papers by this author First published: 23 June 2000 https://doi.org/10.1002/1098-1004(200007)16:1 3.0.CO;2-TCitations: 12 † Communicated by: R.G.H. Cotton ‡ Online Citation: Human Mutation, Mutation and Polymorphism Report #131 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr131.pdf § Acknowledgments: We are indebted to the family members for their cooperation, to Ms. Sinikka Lindh for collecting the blood samples and to Mònica Bayés for helpful discussions. This study has been supported by the Academy of Finland and by Silmä- and Kudospankkisäätiö. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume16, Issue1July 2000Pages 94-94 RelatedInformation
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