The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

Runhart, E.H.; Sangermano, R.; Cornelis, S.S.; Verheij, J.B.G.M.; Plomp, A.S.; Boon, C.J.F.; ... ; Cremers, F.P.M. (2018)

Article / Letter to editor

• ABCA4 protein
• nonpenetrance
• modifiers
• Stargardt disease
• retinal dystrophy

• All authors: Runhart, E.H.; Sangermano, R.; Cornelis, S.S.; Verheij, J.B.G.M.; Plomp, A.S.; Boon, C.J.F.; Lugtenberg, D.; Roosing, S.; Bax, N.M.; Blokland, E.A.W.; Jacobs-Camps, M.H.M.; Velde-Visser, S.D. van der; Pott, J.W.R.; Rohrschneider, K.; Thiadens, A.A.H.J.; Klaver, C.C.W.; Born, L.I. van den; Hoyng, C.B.; Cremers, F.P.M.
• Date: 2018-07-31
• Journal: Investigative Ophthalmology & Visual Science
• Volume: 59
• Issue: 8
• Pages: 3220 - 3231
• DOI: doi:10.1167/iovs.18-23881
• Link: https://iovs.arvojournals.org/article.aspx?articleid=2686996