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

Author(s):
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.
Published
2018
Publication type
Article / Letter to editor
ABCA4 proteinnonpenetrancemodifiersStargardt diseaseretinal dystrophy
Date issued
2018-07-31
Language
English
Is part of
Investigative Ophthalmology & Visual Science (2018), Vol. 59, no. 8, p. 3220-3231
hdl
1887/79637
doi
10.1167/iovs.18-23881
URL
https://iovs.arvojournals.org/article.aspx?articleid=2686996