Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

The American Journal of Human Genetics - Tập 93 - Trang 571-578 - 2013
Gaël Manes1,2,3, Isabelle Meunier1,2,3,4, Almudena Avila-Fernández5, Sandro Banfi6, Guylène Le Meur7, Xavier Zanlonghi8, Marta Corton5, Francesca Simonelli9, Philippe Brabet1,2,3, Gilles Labesse10, Isabelle Audo11,12,13,14, Saddek Mohand-Said11,12,13,14, Christina Zeitz11,12,13, José-Alain Sahel11,12,13,14,15,16, Michel Weber7, Hélène Dollfus17, Claire-Marie Dhaenens18, Delphine Allorge18, Elfride De Baere19, Robert K. Koenekoop20
1Institut National de la Santé et de la Recherche Médicale, U1051, Institute for Neurosciences of Montpellier, Montpellier 34091, France
2Université Montpellier 1, Montpellier 34091, France
3Université Montpellier 2, Montpellier 34091, France
4Centre Hospitalier Regional Universitaire, Genetics of Sensory Diseases, Montpellier 34091, France
5Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid 28040, Spain
6Telethon Institute of Genetics and Medicine and Dipartimento di Biochimica, Biofisica e Patologia Generale, Second University of Naples, Naples 80131, Italy
7Centre Hospitalier Regional Universitaire, Department of Ophthalmology, Nantes 44093, France
8Clinique Sourdille, Nantes 44000, France
9Eye Clinic, Second University of Naples, Naples 80131, Italy
10Institut National de la Santé et de la Recherche Médicale, U554 and Centre National de la Recherche Scientifique, UMR 5048, Centre de Biochimie Structurale, Montpellier 34090, France
11Institut National de la Santé et de la Recherche Médicale, U968, Paris 75012, France
12Centre National de la Recherche Scièntifiique, UMR 7210, Paris 75012, France
13Institut de la Vision, Université Pierre et Marie Curie, Paris 06, UMR S968, Paris 75012, France
14Centre Hospitalier National d'Ophtahmologie des Quinze-Vingts, Institut National de la Santé et de la Recherche Médicale, Direction de l'Hospitalisation et de l'Organisation des Soins, Centre d'Investigation Clinique 503, Paris 75012, France
15Fondation Ophtalmologique Adolphe de Rotheschild, Paris 75019, France
16Académie des Sciences-Institut de France, Paris 75006, France
17Centre Hospitalier Regional Universitaire, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Strasbourg 67000, France
18Centre Hospitalier Regional Universitaire, Laboratoire de Biochimie et Biologie Moléculaire, UF Génopathies, Lille 59037, France
19Center for Medical Genetics, Ghent 9000, Belgium
20McGill Ocular Genetics Laboratory, Paediatric Ophthalmology Division, Montreal Children’s Hospital, McGill University Health Centre, Montreal, QC H3H 1P3, Canada

Tài liệu tham khảo

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