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Klin Monbl Augenheilkd 2016; 233(04): 475-477
DOI: 10.1055/s-0042-102585
Der interessante Fall
Georg Thieme Verlag KG Stuttgart · New York

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

Rekurrente ELOVL4 Genmutation verursacht dominante Stargardt-Krankheit in einer Schweizer Familie
H. V. Tran*
1   Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
,
E. Moret*
2   IRO-Institute for Research in Ophthalmology, Sion, Switzerland
3   Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland
,
V. Vaclavik
1   Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
,
F. Marcelli
2   IRO-Institute for Research in Ophthalmology, Sion, Switzerland
,
M. M. Abitbol
4   Department of Ophthalmology of Necker-Enfants-Malades, University Hospital, Paris Descartes University, Paris, France
,
F. L. Munier
1   Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
2   IRO-Institute for Research in Ophthalmology, Sion, Switzerland
3   Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland
,
D. F. Schorderet
1   Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
2   IRO-Institute for Research in Ophthalmology, Sion, Switzerland
3   Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland
5   EPFL-Ecole polytechnique fédérale de Lausanne, Lausanne, Switzerland
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