The common ABCA4 variant p.Asn1868Ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
15 May 2018
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| In: |
Investigative ophthalmology & visual science
Year: 2018, Volume: 59, Issue: 8, Pages: 3220-3231 |
| ISSN: | 1552-5783 |
| DOI: | 10.1167/iovs.18-23881 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1167/iovs.18-23881 Verlag, Volltext: https://iovs.arvojournals.org/article.aspx?articleid=2686996 
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| Author Notes: | Esmee H. Runhart, Riccardo Sangermano, Stéphanie S. Cornelis, Joke B.G.M. Verheij, Astrid S. Plomp, Camiel J.F. Boon, Dorien Lugtenberg, Susanne Roosing, Nathalie M. Bax, Ellen A.W. Blokland, Marlie H.M. Jacobs-Camps, Saskia D. van der Velde-Visser, Jan-Willem R. Pott, Klaus Rohrschneider, Alberta A.H.J. Thiadens, Caroline C.W. Klaver, L. Ingeborgh van den Born, Carel B. Hoyng, and Frans P.M. Cremers |
| Item Description: | Gesehen am 30.04.2019 Im Titel sind "ABCA4" und "trans" kursiv geschrieben |
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| Physical Description: | Online Resource |
| ISSN: | 1552-5783 |
| DOI: | 10.1167/iovs.18-23881 |